SERVICES

◇ Screening of Complicated Genetic Diseases ◇

Genetic Diseases with Chromosomal Abnormalities

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Cytoscan HD Genome-Wide   Chip Genetic Diseases Screening

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

SNP Chip

Genome-wide high resolution screening of   genetic diseases caused by chromosomal anerrations, including unexplained mental retardation, developmental retardation, multiple anomalies, autisms, etc.

10 Workdays

Neonatal Aneuploidy Fish Related   Detection

(13、18、21、X And Y Chromosome)

Peripheral blood 3-5ml

Heparin   anticoagulation tube ( BD heparin anticoagulation tube   is recommended)

Strict aseptic operation

4℃, delivered for testing within 1d

FISH

 Auxiliary diagnosis of neonatal   chromosomal diseases caused by aneuploidy lossing or gaining of 13, 18, 21, x   or y chromosome, such as trisomy 13 syndrome (Patau syndrome), trisomy 18   syndrome (Edwards syndrome), trisomy 21 syndrome (Down syndrome) etc.

Monday to Friday

7 Workdays

 

Genetic Diseases with Next-Generation Sequencing

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Comprehensive Screening of Genetic   Diseases (750k+Medical Exome 5000)

Peripheral blood 5-7ml, aliquoted in two tubes

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

SNP Chip

Next-Generation Sequencing

Screening for genetic diseases caused   by chromosome aberration or gene mutation.

45 Days

Medical Exome Plus Mitochondrial   Genome Sequencing

Peripheral blood 7ml

EDTA anticoagulation   tube

4℃,delivered for testing within 72h

Next-Generation Sequencing

Screening for genetic diseases or mitochondrial   diseases.

45 Days

Whole Exome Sequencing(WES)

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing

Screening for genetic diseases.

45 Days

Medical Exome 5000 Genetic Diseases Screening

Screening for genetic diseases.

45 Days

Gene Mass   Spectrometry

Peripheral blood 7ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing, Liquid Chromatography   Tandem Mass Spectrometry

Comprehensive diagnosis of inherited   metabolic diseases through gene detection and liquid chromatography tandem mass spectrometry.

40 Days

Mitochondrial Genome Sequencing

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing

Screening for circular mitochondrial   mutation diseases.

45 Days

Inherited Metabolism Related Panel   Detection

Screening for inherited metabolic   diseases.

Genetic Endocrine Related Panel   Detection

Screening for genetic endocrine   diseases.

Genetic Epilepsy Related Panel   Detection

Screening for genetic epilepsy.

Genetic Neuromuscular Diseases Related   Panel Detection

Screening for genetic neuromuscular   diseases.

Genetic Leukoencephalopathy Related Panel Detection

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing

Screening for genetic   leukoencephalopathy.

45 Days

Genetic Liver Diseases Related Panel Detection

Screening for genetic liver diseases.

Genetic Dermatoses Related Panel Detection

Screening for genetic dermatoses.

Genetic Renal Diseases Related Panel Detection

Screening for genetic renal diseases.

Genetic Immunodeficiency   Diseases Related Panel Detection

Screening for genetic immunodeficiency   diseases.

Genetic Respiratory Diseases Related Panel Detection

Screening for genetic respiratory   diseases.

Detection Of 154 Genes Related to   Childhood Cardiomyopathy and Arrhythmia

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing

1.Differential diagnosis of primary genetic   diseases and secondary diseases; 2. Precisely identify the subtype of   disease, indicate the prognosis of patient, guide the selection of drugs,   help to determine the operation indications; 3. For diagnosed patients,   predict the risk of their immediate family members and siblings; 4. Assist   prenatal diagnosis, prenatal and postnatal care.

45 Days

Genetic Cardiomyopathy Related Panel   Detection

Screening for genetic cardiomyopathy.

Genetic Bone Abnormality Related Panel   Detection

Screening for genetic bone abnormality   diseases.

Genetic Parkinson’s Disease and Dystonia, ALS, Dementia   Related Panel Detection

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing

Screening for Parkinson’s disease and Dystonia,   ALS, Dementia.

45 Days

Genetic Ataxia and Spastic Paraplegia Related Panel   Detection

Screening for genetic ataxia and   spastic paraplegia

Detection of 210 Genes Related to Childhood Asthma

Screening for childhood asthma

Genetic Ophthalmic Diseases Related Panel Detection

Screening for genetic ophthalmic   diseases

Genetic Deafness Related Panel Detection

Screening for genetic deafness

Gene Focus Detection + DMD MLPA   Detection

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing, MPLA

Screening for high-incidence and   common genetic diseases and the patients mainly suspected to be suffering DMD

9 Days/45 Days

Gene Focus Detection+CYP21A2 Gene   Mutation Full Set Detection

Next-Generation Sequencing,

First-Generation Sequencing, MPLA

Screening for high-incidence and   common genetic diseases and the patients mainly suspected to be suffering 21-hydroxylase deficiency

Genetic Neuromuscular Diseases Related Panel Detection   +DMD Gene Detection with MLPA

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing,

MPLA

Screening for genetic neuromuscular   diseases and the patients mainly suspected to be suffering DMD.

9 Days/45 Days

Genetic Neuromuscular Diseases Related Panel Detection   +SMN Gene Detection with MLPA

Screening for genetic neuromuscular   diseases and the patients mainly suspected to be suffering SMA.

 

Family(Trios)Detection Item

 

Test Items

Sample   Requirement

Methods

Clinical Significance

Turn Around Time

Trios- Whole Exome Sequencing(WES)Screening

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing

Whole exome sequencing(WES)screening of 3 familial members

45 Days

Trios-Medical Exome 5000 Genetic   Diseases Screening

Screening for 5000 genetic diseases in   a family

Trios-Sub Whole Exome 4000 Genetic   Diseases Screening

Screening for 4000 genetic diseases in   a family

Trios-Genetic Metabolism Related Panel   Detection

Screening for inherited metabolic   diseases in a family

Trios-Genetic Endocrine Diseases Related   Panel Detection

Screening for genetic endocrine   diseases in a family

Trios-Genetic Epilepsy Related Panel   Detection

Screening for genetic epilepsy in a   family

Trios-Genetic Neuromuscular Diseases   Related Panel Detection

Screening for genetic neuromuscular   diseases in a family

Trios-Genetic Leukoencephalopathy   Related Panel Detection

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

Next-Generation Sequencing

Screening for genetic   leukoencephalopathy in a family

45 Days

Trios-Genetic Liver Diseases Related   Panel Detection

Screening for genetic liver diseases   in a family

Trios-Genetic Dermatoses Related Panel   Detection

Screening for genetic dermatoses in a   family

Trios-Genetic Renal Diseases Related   Panel Detection

Screening for genetic renal diseases   in a family

Trios-Genetic Immunodeficiency   Diseases Related Panel Detection

Screening for genetic immunodeficiency   diseases in a family

Trios-Genetic Respiratory Diseases   Related Panel Detection

Screening for genetic respiratory   diseases in a family

 

Neonatal Disease Detection Package

 

Test Items

Sample Requirement

Methods

Clinical   Significance

Turn Around Time

Peripheral Blood   Chromosome Karyotype Analysis

Peripheral blood 2ml

Bd heparin anticoagulation   tube

4℃, sent for inspection within 1d

G Banding

Auxiliary diagnosis for neonatal genetic diseases

Monday to Friday

15 Workdays

Genetic Metabolic Disease Detection with Tandem   Mass Spectrometry *

Dried blood filter

4℃, delivered for testing within 2w

Liquid Tandem Mass Spectrometry

(LC-MS/MS)

5 Workdays

Congenital Deafness Hot Spots Mutations Detection

Peripheral blood 3-5ml

EDTA anticoagulation   tube

4℃, delivered for testing within 72h

PCR

Gene Sequencing

Monday to Friday

5 Workdays

 

◇ Genetic Metabolic Diseases ◇

 

Test Items

Methods

Sample   Requirement

Clinical   Significance

Turn Around Time

Genetic Metabolic Diseases Detection with Tandem   Mass Spectrometry *

Liquid Tandem Mass Spectrometry

(LC-MS/MS)

Dried blood with Filter paper

4℃, delivered for testing within 2w

Contribute to diagnose 17 metabolic diseases, 14 fatty acid metabolic diseases and 14 organic acid   metabolic diseases in time (Phenylketonuria, Maple Syrup Urine   Disease, Citrin Deficiency, Methylmalonic Acidemias, Propionic Acidemia,   Isovaleric Acidemia, Glutaric Acidemia TypeⅠ, Biotindase Deficiency, Holocarboxylase   Synthetase Deficiency, Ornithine Transcarbamylase Deficiency, Tyrosinemia   TypeⅠ, Ⅱ, Ⅲ, Maple   Syrup Urine Disease, Citrullinemia TypeⅠ, Ⅱ(Citrin Deficiency), Arginosuccinic Aciduria,   Arginemia, Homocystinuria,   Hypermethionemia, Histidinemia, Hyperprolinuria, Hyperornithinemia,   Nonketotichyperglycinemia, Hyperammonemia, Homocitrullinuria Syndrome,   Carnitine Uptake Defect, Carnitine Palmitoyltransferase Deficiency TypeⅠ, Ⅱ, Carnitine/Acylcarnitine Translocase Deficiency,   Very Long Chain Acyl CoA Dehydrogenase Deficiency, Long Chain Acyl CoA   Dehydrogenase Deficiency, Medium Chain Acyl CoA Dehydrogenase Deficiency,   Short Chain Acyl CoA Dehydrogenase Deficiency, Very Long Chain 3-Hydroxyacyl   CoA Dehydrogenase Deficiency, Short Chain 3-Hydroxyacyl CoA Dehydrogenase   Deficiency, Multiple Acyl CoA Dehydrogenase Deficiency, 2,4-Dienoyl-CoA   Reductase Deficiency, Medium Chain 3-Ketoacyl CoA Thiolase Deficiency,   Ethylmalonic Encephalopathy, Mitochondrial   Trifunctional Protein Deficiency. To avoid or reduce the hurt of the outbreak of diseases,   with appropriate treatment, the damage of diseases may be prevented or   reduced.

5 Workdays

Gas Chromatography Mass Spectrometry   for Genetic Metabolic Diseases Detection*

Gas Phase Mass Spectrometry(GS/MS)

Urine Filter   paper

4℃, delivered for testing within 2w

Contribute to diagnose these organic acidemias and   amino acid metabolic diseases in time (Methylmalonic Acidemias, Propionic   Acidemia, Isovaleric Acidemia, Glutaric Acidemia TypeⅠ, Biotindase Deficiency, Holocarboxylase Synthetase Deficiency,   3-Methylcrotonyl-CoA Carboxylase Deficiency, 3-Methylglutaconyl-CoA Hydratase   Deficiency, 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency, Beta-Keto   Thiolase Deficiency, 2-Methyl-3-Hydroxybutryl CoA Dehydrogenase Deficiency,   Malonic Acidemia, 2-Methylbutryl-CoA Dehydrogenase Deficiency, Isobutyryl-CoA   Dehydrogenase Deficiency, Methylhydroxy Valeric Aciduria, Glycerol Kinase Deficiency, Spongy   Leukodystrophy, 4-Hydroxy   Butyric Aciduria, 2-Hydroxyglutaric Aciduria, 3-Hydroxy-Isobutyric   Aciduria, Ethyl Malonic   Encephalopathy, Hyperphenylalaninemia, Ornithine Transcarbamylase Deficiency,   Tyrosinemia TypeⅠ, Ⅱ And Ⅲ, Maple Syrup Urine Disease,  Citrullinemia TypeⅠ And Ⅱ (Citrin Deficiency), Argininosuccinic Aciduria,   Arginemia, Argininosuccinicaciduria, 5-Hydroxyproline Aciduria, Alkaptonuria   ). To avoid or reduce the hurt of the outbreak of diseases, with appropriate   treatment, the damage of diseases may be prevented or reduced.

7 Workdays

 

Hyperphenylaninemia (Phenylketonuria)

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Phenylketonuria Related Gene PAH Mutation

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Auxiliary diagnosis for phenylketonuria before or   after the onset of disease

Monday to Friday

7 Workdays

Phenylketonuria Related Gene PAH Hot Spots   Mutation

 

Tyrosinemia Type I, II And III

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Tyrosinemia Type I FAH   Gene Mutation

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Auxiliary diagnosis for tyrosinemia Type I.

Monday to Friday

7 Workdays

Tyrosinemia Type II

TAT Gene Mutation

Auxiliary diagnosis for tyrosinemia Type II.

Tyrosinemia Type III

HPD Gene Mutation

Auxiliary diagnosis for tyrosinemia Type III.

Detection for Tyrosinemia Type I, II and III Related Genes

Auxiliary diagnosis for tyrosinemia.

 

Urea Cycle Disorders

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Ornithinetranscarbamylase Deficiency OTC Mutation

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Auxiliary diagnosis for Ornithinetranscarbamylase Deficiency, for those individuals who have family history, assess their individual   risk of illness.

Monday to Friday

7 Workdays

Citrin Deficiency

SLC25A13 Gene Hot-Spots Mutation

Auxiliary diagnosis for Citrin Deficiency (including   two different phenotypes of adult onset citrullinemia Type II and Neonatal Intrahepatic Cholestasis caused   by Citrin Deficiency).

Monday to Friday

5 Workdays

 

Carbohydrate Metabolism Disorders

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Glycogen   Storage Disease Type I

G6PC, SLC37A4   Gene Mutation

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Focus on the Type I a, I b and II of glycogen storage disease(they   are related to G6PC, SLC37A4 and GAA gene   respectively), analyze the mutation of the whole encoding region,  adjacent transcription and splicing sites.   Assist the clinical diagnosis of glycogen   storage disease Type I and II.

Monday to Friday

7 Workdays

Glycogen   Storage Disease Type II

The Whole Exon Sequencing of GAA

Gene Detection of Glycogen Storage Disease Type I   and II Related Genes

Assist the diagnosis of glycogen storage disease Type I and II.

Galactosemia Related GALT Gene Mutation

Assist the early screening of galactosemia and timely diagnosis   and treatment.

 

Methylmalonic Aciduria /Acidemia

 

Test Items

Sample   Requirement

Methods

Clinical Significance

Turn Around Time

Methylmalonic Aciduria and Hyper Cystinuria, Type cblC

Whole Gene Sequencing of MMACHC Gene*

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Diagnose methylmalonic aciduria and hyper cystinuria, Type cblC. For those   patients who have family history and unidentified mutations, screening for pathogenic mutations and auxiliary diagnosis.

Monday to Friday

7 Workdays

Known Mutations of MMACHC Gene*

For those patients who have family history of methylmalonic aciduria and hyper cystinuria, assess their individual   risk of illness. For those patients who are confirmed as methylmalonic aciduria and hyper cystinuria, contribute to distinguish   Type cblC, cblD or cblF.

Monday to Friday

5 Workdays

Methylmalonic Aciduria Combined Homocystinuria,Type cblD

Whole Gene Sequencing of MMADHC Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Diagnose methylmalonic   aciduria and hyper cystinuria,   Type cblC. For those patients who have family history and unidentified pathogenic mutations, the detection can screen for   pathogenic mutations and make auxiliary diagnosis.

Monday to Friday

7 Workdays

Known Mutation of MMADHC Gene

The detection of known mutations can contribute to   identify the genetic information of family members and contribute to   distinguish Type cblC, cblD or cblF.

Monday to Friday

5 Workdays

Methyl Malonic Acidemia

Type MMA-mut0 (MUT Gene) Gene Mutation

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Type mut0(MUT gene mutation)and Type cblB(MMAB gene mutation)are most common MMA types, Type mut0 has the worst   prognosis in MMA. The clinical manifestation of neonatal MMA is not specific.   Neonatal MMA has early onset and serious condition and its misdiagnosis rate   is high. Early diagnosis and treatment could guide treatment and assess   prognosis effectively. Gene diagnosis is an effective way for early diagnosis.  

Monday to Friday

7 Workdays

Methyl Malonic Acidemia MMA- Type cblB (MMAB Gene) Gene Mutation

Methyl   Malonic Academia Related Genes Detection

Aid to diagnose methyl malonic acidemia.

 

 

Lysosome Metabolic Disorders

 

Test Items

Sample Requirement

Methods

Clinical   Significance

Turn Around Time

Mucopolysaccharidosis

Type I (IDUA) Mutation

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis and typing of mucopolysaccharidosis.  

Monday to Friday

7 Workdays

Type Ⅱ (IDS)   Mutation

Type ⅣA (GALNS) Mutation

Type ⅣB (GLB1) Mutation

Type Ⅵ (ARSB)   Mutation

Mucopolysaccharidosis Related Genes Detection(5 Items Together)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis and typing of mucopolysaccharidosis

Monday to Friday

7 Workdays

Gaucher Disease Related Genes Detection

GBA Gene Sequencing

Assist the diagnosis of Gaucher Disease and distinguish it with other   common diseases causing pathogenic changes in spleen, such as Niemann-Pick   Disease, Fucosidosis, Hurler syndrome,   Leukemia, Hodgkin’s Disease etc.

Mutation of Niemann-Pick Disease Related SMPD1   Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of Niemann-Pick Disease.

Monday to Friday

5 Workdays

Metachromatic Leukoencephalopathy ARSA Gene

The mutation of   aryl sulphatase encoded by ARSA gene may cause the sedimentation of   sulfatide, thus cause metachromatic leukoencephalopathy. Detection of the   mutation of ARSA gene could assist the diagnosis of metachromatic   leukoencephalopathy. 

Monday to Friday

7 Workdays

 

Magnesium Metabolism Disorders

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Bartter Syndrome Type I Mutation

of SLC12A1 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of Bartter syndrome t Type I

Monday to Friday

7 Workdays

Bartter Syndrome Type II Mutation

of KCNJ1 Gene

Assist the diagnosis of Bartter syndrome Type II

Bartter Syndrome Type III Mutation

of CLCNKB Gene

Assist the diagnosis of Bartter syndrome Type III

Bartter Syndrome Type I, II And III(Mutation of SLC12A1, KCNJ1   and CLCNKB Gene)

Assist the diagnosis of Bartter syndrome Type I,   II And III

Gitelman Syndrome

Mutation of SLC12A3 Gene

Contribute to the diagnosis of Gitelman syndrome, and to the   differential diagnosis of Gitelman syndrome and Bartter syndrome

 

Others

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Maple Syrup Urine Disease BCKDHA Gene Mutation

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of maple syrup urine disease  

Monday to Friday

7 Workdays

Isovaleric Acidemia IVD Gene Mutation

Assist the clinical diagnosis of isovaleric acidemia,   differentially diagnose isovaleric acidemia and other organic acidemia

X-Linked Adrenoleukodystrophy

Mutation of ABCD1 Gene

Assist the diagnosis of x-linked adrenoleukodystrophy

3-Hydroxyacyl-Coa Dehydrogenase Deficiency HADHA Gene   Mutation

Assist the diagnosis of x-linked adrenoleukodystrophy

Hepatolenticular Degeneration (Wilson’s Disease)

ATP7B

(21 Exons)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Hepatolenticular degeneration is named Wilson’s Disease (WD). It is an autosomal recessive inherited disease characteristic by metabolic disorder of copper. Gene detection can not only   assist the diagnosis of Wilson’s Disease, but also screen the immediate family of patients,   thus assist the early diagnosis of hepatolenticular degeneration (Wilson’s Disease).   For the immediate family of those patients whose mutations have been   detected, haplotype analysis and specific mutation analysis may be applied to   them to assist the diagnosis of hepatolenticular degeneration (Wilson’s Disease). Screening to the immediate family of patients may be   applied.

Monday to Friday

7 Workdays

Hot-spots Mutation of ATP7B

(Exon8,12,13,16)

Monday to Friday

5 Workdays

Known Mutation of ATP7B Gene

Monday to Friday

5 Workdays

Hotspot Mutations in Hereditary Hemochromatosis Related Gene HFE

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Hereditary Hemochromatosis (HH) is a disease mainly   characterized by progressive iron deposition and damage (especially the   functional damage of liver and heart) in tissues, which is caused by   intestinal iron absorption disorder. The variation of HFE gene is the main   cause of hereditary hemochromatosis.

Monday to Friday

5 Workdays

 

◇ Endocrine System Genetic Diseases ◇

 

Disorders of Sex Development

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Whole Set Detection of The Mutation in Congenital Adrenal Cortical Hyperplasia Related   Gene CYP21A2

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

Gene Sequencing

MLPA

Diagnosis of gene CYP21A2 is a strong supplement of the detection of   serum 17-OHP level, it can assist the screening of positive CAH newborns, the   diagnosis of non-specific CAH, the confirmation of carriers and genetic   counselling.

Monday to Friday

7 Workdays

Mutations in Androgen Insensitivity Syndrome Related Gene AR

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

The patient’s androgen receptor is loss or reduced because of mutations   in androgen receptor gene AR, thus the target tissues are insensitive to   androgen and the normal biological effects are loss totally or partially.

Monday to Friday

5 Workdays

Mutations in Simple 46, XY Gonadal Digenesis Syndrome Related Gene SRY

Detect the exon and flanking sequence of testis determining factor gene SRY,   together with the chromosomal karyotyping result of peripheral blood, provide   the evidence for definite diagnosis and treatment for clinicians, assist the   diagnosis of gonadal digenesis syndrome.     

Mutations in Gonadal Digenesis Related Genes AR, SRY

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of gonadal digenesis.

Monday to Friday

7 Workdays

Mutations in Kallmann Syndrome Related Genes KAL1, FGFR1

Assist the diagnosis of Kallmann Syndrome.

 

Growth Hormone Deficiency and Short Stature

 

Test Items

Sample   Requirement

Methods

Clinical Significance

Turn Around Time

Noonan Syndrome

All the Exons of PTPN 11 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist diagnosis and early diagnosis, treat the complications asap after   definite diagnosis, for example, for the patient who has cardiovascular malformation, operation should be performed.

Monday to Friday

7 Workdays

 

Thyroid Dysfunction

 

Test Items

Sample   Requirement

Methods

Clinical Significance

Turn Around Time

Transthyretin

TTR Gene Sequencing

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of   transthyretin (TTR) related familial   amyloidosis

Monday to Friday

7 Workdays

Familial Hypocalciuric Hypercalcemia/

Hereditary Hypoparathyroidism

Mutations in CASR   Gene*

Assist the diagnosis of familial   hypocalciuric hypercalcemia (FHH), neonatal severe primary hyperparathyroidism (NSHPT), autosomal dominant hypocalciuric   hypercalcemia (ADHH) and familial hypocalcemia.

Monday to Friday

10 Workdays

 

Others

 

Test Items

Sample   Requirement

Methods

Clinical Significance

Turn Around Time

Mutations in Congenital Generalized   Lipodystrophy Related Gene AGPAT2

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of congenital generalized   lipodystrophy

Monday to Friday

5 Workdays

 

◇ Hereditary Deafness ◇

 

Test Items

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Non-Syndromic Deafness

All The Exons of Cx26(GJB2)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

The detection of deafness related genes can prevent the occurrence of   drug deafness, provide pre-reproductive genetic guidance for deaf group, and   necessary theoretical evidence for the prevention of deafness and birth   defect intervention.

Monday to Friday

7 Workdays

Known Mutations of Cx26(GJB2)

PCR

Gene Sequencing

342kb Large Fragment Deletion of Cx30(GJB6)

Hot-spot Mutations of mtDNA (Mitochondrion)

(1494C>T,1555A>G, 7445A>G)

All the Exons of Cx26 (GJB2),   342kb Large Fragment   Deletion of Cx30(GJB6), Hot-spot Mutations   of Cx31 (GJB3)(538C>T,547G>A), Hot-spot Mutations of mtDNA (Mitochondrion) (1494C>T,1555A>G,   7445A>G)

Syndromic Deafness

All the Exons of   SLC26A4(PDS Gene)

Peripheral blood 6-8ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

The detection of deafness related genes can prevent the occurrence of   drug deafness, provide pre-reproductive genetic guidance for deaf group, and   necessary theoretical evidence for the prevention of deafness and birth   defect intervention.

Monday to Friday

7 Workdays

Known Mutations of   SLC26A4(PDS Gene)

Hot-spot Mutations of Congenital Deafness

20 Hot-spot Mutations of   Cx26(GJB2), Cx31(GJB3), mtDNA (Mitochondrion), SLC26A4(PDS Gene) and 342kb Large Fragment Deletion of Cx30(GJB6)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

Detection of 4 Common Genes of Hereditary Deafness

9 High Rate Mutation  Sites of 4 Common Genes(GJB2, GJB3, 12S rRNA and   SLC26A4)

Peripheral blood 5ml, the child≥2ml

EDTA anticoagulation tube

3 Blood spots

Separate blood collection card

Micro-Array Chip

1.Screening of newborns; 2.   Detection of patients with non-syndromic deafness; 3. Screening of normal   hearing members of deaf family.

Monday to Friday

5 Workdays

Detection of Hereditary Deafness Related Genes(100 Sites of 18 Genes)

100 Deafness Sites of 18 Genes

(GJB2, SLC26A4, GJB3, MYO15A, TECTA, DIABLO, COCH,   DSPP, GPR98, DFNA5, TMC1, MT-CO1,

MT-RNR1, MT-TH, MT-TL1, MT-TS1, PRPS1, MYO7A)

4 Blood spots

4℃,delivered for testing within 72h

Multiple PCR

High-Throughput Sequencing

Early identify, diagnose and intervene newborns deafness, pre-marital,   pre-conception and prenatal screening, prevent birth defect, identify the   pathogeny of deaf patients and the people having deafness family history,   screening the mutation of deafness genes in general population.

10 Days

 

◇ Hereditary Muscle Disease ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Pseudohypertrophic Progressive Muscular Dystrophy(DMD/BMD)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

MLPA

Assist the diagnosis of pseudohypertrophic   progressive muscular dystrophy

Monday to Friday

5 Workdays

Mutation of Duchenne Muscular Dystrophy Related   DMD Gene

Next-Generation Sequencing

Package Detection of Duchenne Muscular Dystrophy   Related DMD Gene

Next-Generation Sequencing

MLPA

Known Mutations of Duchenne Muscular Dystrophy   Related DMD Gene

PCR

Gene Sequencing

Confirm the known mutations of DMD gene,   contribute to the confirmation and diagnosis of Duchenne Muscular Dystrophy   family.

Detection of Spinal Muscular Dystrophy (SMN) Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

MLPA

Assist the diagnosis of spinal muscular dystrophy, contribute to genetic counselling

Monday to Friday

7 Workdays

Whole Set Mutation Detection of Peronial   Myoatrophy Related Genes

(Including large fragment deletion/   duplication of PMP22, GJB1 and MPZ , point mutation of PMP22,MFN2,MPZ and GJB1)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

MLPA

Sanger Sequencing

This detection item focuses on those patients   whose typing are unclear, provide reference for the diagnosis peronial   myoatrophy

Monday to Friday

5 Workdays

Detection of Mutation of Demyelinating Type of   Peronial Myoatrophy Related Genes

(Including large fragment deletion/   duplication of PMP22, GJB1 and MPZ, point mutation of GJB1, PMP22,and MPZ)

MLPA

Sanger Sequencing

This detection item focuses on demyelinating type   of patients, provide reference for the diagnosis of this type of Peronial Myoatrophy.

Detection of Mutation of Axonal Type of Peronial   Myoatrophy Related Genes

(Including Point Mutation of   MFN2, MPZ and GJB1)

Sanger Sequencing

This detection item focuses on axonal type of   patients, provide reference for the diagnosis of this type of Peronial Myoatrophy.

 

◇ Skeletal Dysplasia ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Achondroplasia

FGFR3

(G1138A or G1138C)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of achondroplasia and dwarfism

Monday to Friday

5 Workdays

Hypochondroplasia

FGFR3

(C1620A or C1620G)

Assist the diagnosis of hypochondroplasia and dwarfism

Osteogenesis Imperfect

Mutations of COL1A1   and COL1A2 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

Next-Generation Sequencing

1.Assist the diagnosis of osteogenesis   imperfect; 2. Assist the differentiation of Osteogenesis Imperfect,   Congenital Amyotonia, Achondroplasia, Hypothyroidism and Hyperparathyroidism,   etc.

Monday to Friday

7 Workdays

Known Mutations of COL1A1 and COL1A2 Gene

Detection of Mutations In 10 Osteogenesis   Imperfect Related Genes

Sequencing 10 Genes

 (COL1A1,   COL1A2, CRTAP, PPIB, LEPRE1, FKBP10, SERPINH1,SP7,SERPINF1, PLOD2,)

Monday to Friday

10 Workdays

X-Linked Low Phosphate Vitamin D Resistant Rickets

Hot-spot Mutation of PHEX Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Detecting the mutation of phex gene of suspected patient is important   for assisting the   prenatal diagnosis and   forecasting the prognosis

Monday to Friday

7 Workdays

Mutation of Hereditary Multiple Exostoses EXT1 and   EXT2 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Hereditary multiple exostoses (HME) is an autosomal dominant disease   characterized by the formation of cartilage-capped prominences that develop   from the juxta-epiphyseal regions of the long bones. 90% patients have   pathogenic mutations in EXT1 and EXT2 gene, mutation of EXT1 genes is   detected in 44%~66% HME families, mutation of ext2 gene in 27% HME families.

Monday to Friday

5 Workdays

Marfan Syndrome

Sequencing of Mutation of FBN1 Gene Exons 24-32

(Newborn’s Marfan Syndrome)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Mutation of FBN1 gene is an important cause of Marfan Syndrome. Screening the whole region of   FBN1 gene can assist early diagnosis of Marfan Syndrome. For those patients   having mutations in FBN1 gene, this detection can detect family members   before symptoms occur.

Monday to Friday

7 Workdays

Sequencing of FBN1 Gene

Monday to Friday

7 Workdays

Known Mutation of FBN1 Gene

Monday to Friday

5 Workdays

Noonan Syndrome

All the Exons of PTPN11 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist diagnosis and early diagnosis, treat the complications asap after   definite diagnosis, for example, for the patient who has cardiovascular malformation, operation should be performed.

Monday to Friday

7 Workdays

 

◇ Hereditary Skin Diseases ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Mutation of Oculocutaneous Albinism Type 1 Related Gene TYR

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of albinism

Monday to Friday

7 Workdays

Mutation of Neurofibroma Related Gene NF1

Assist the diagnosis of neurofibroma Type I through detecting mutation   in NF1 gene

Mutation in Tuberous Sclerosis Related Gene TSC1 and TSC2

Assist the diagnosis of tuberous sclerosis

Dyskeratosis Congenital

(8 Items)

DKC1, TERT, NOP10, TINF2, TERC, NHP2, C16orf57,   TCAB1

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of dyskeratosis congenital (DC), the detection is also   applicable for screening the index of DC in patients with aplastic anemia.

Monday to Friday

10 Workdays

Hereditary   Hemorrhagic Telangiectasia

Whole Gene Analysis of ENG, ACVRL1

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of hereditary hemorrhagic   telangiectasia(HHT), including Type I and II; definitely diagnose family member with   specific mutations.

Monday to Friday

7 Workdays

Whole Gene Analysis of ENG

Known Mutation of ENG Gene

Monday to Friday

5 Workdays

 

Whole Gene Analysis of ACVRL1

Known Mutation of ACVRL1 Gene

Mutation of SMAD4 Gene

Hereditary   Hemorrhagic Telangiectasia(3 Items)

Monday to Friday

7 Workdays

 

 

◇ Hereditary Nervous System Diseases ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Mutation of Neurofibroma Related Gene NF1

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of neurofibroma Type I   through detecting mutation in NF1 gene

Monday to Friday

7 Workdays

Legius Syndrome

SPRED1

Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Legius Syndrome (LS)is also known as neurofibromatosis Type I -like Syndrome. It is caused by mutations in the SPRED1 gene. It is   characterized by brown macule and armpit spots. Between LS and NF-1 an   important difference is the absence of tumor growths (lisch nodules,   neurofibromas and intracranial   tumor) in LS. LS does not impact mental development.

Monday to Friday

7 Workdays

Known Mutations of SPRED1 Gene

Monday to Friday

5 Workdays

Mutations in Dravet Syndrome Related Genes

The Promoter, Exons and Splicing Sites of SCN1A   Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

The mutations in SCN1A gene can be detected in   approximately 70% patients with Dravet Syndrome. The sequencing of SCN1A gene   can detect most of the minor mutations in exons and splicing sites.

Monday to Friday

7 Workdays

The Whole Gene Analysis of Tau *

MAPT Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis, subtype diagnosis and assessment of   individual risk of frontotemporal lobe degeneration (FTLD), assist the diagnosis of progressive supranuclear   stroke, corticobasal degeneration and dementia with   epilepsy, assist the assessment of individual risk.

Monday to Friday

7 Workdays

Analysis of Known Mutations in Tau Gene*

Mutation in Tuberous Sclerosis Related Gene TSC1 and TSC2

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of tuberous sclerosis

Monday to Friday

7 Workdays

Mutation Analysis of Cerebral Autosomal Dominant   Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Related Gene NOTCH3

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the clinical diagnosis of cerebral autosomal dominant arteriopathy with   subcortical infarcts and leukoencephalopathy (CADASIL)

Monday to Friday

5 Workdays

Mutation Analysis of Cerebral Autosomal Dominant   Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Related   Gene HTRA1

PCR

Gene Sequencing

Assist the clinical diagnosis of cerebral   autosomal dominant arteriopathy with subcortical infarcts and   leukoencephalopathy (CADASIL)

 

Autism Related Detection

 

Test Item

Sample   Requirement

Methods

Clinical Significance

Turn Around Time

Methylation of Prader-Willi Syndrome Related SNRPN   Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

MS-PCR

Since the clinical diagnosis criteria of PWS has   been established, it is usually confused with SMA and other diseases causing   low muscle tension because of brain   hypoplasia during early childhood, thus the clinical diagnosis is very hard   to make. For those clinically high suspected PWS children, PWS methylation   specific PCR detection is an effective and preferred screening method for   diagnosing PWS.  

Monday to Friday

7 Workdays

Rett Syndrome

Sequencing of All Exons of MECP2 Gene

PCR

Gene Sequencing

Differentiate Rett syndrome with autism and   Angelman syndrome, assist the diagnosis of Rett syndrome

 

Congenital Craniosynostosis

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Apert Syndrome

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of various types of   craniosynostosis syndromes, such as Apert Syndrome, Crouzon Syndrome, Crouzon   syndrome with acanthosis nigricans, Jackson-Weiss Syndrome, Muenke Syndrome, Pfeiffer Syndrome

Monday to Friday

7 Workdays

Crouzon Syndrome

Known Mutations in Crouzon Syndrome Related Genes

Crouzon Syndrome With Acanthosis   Nigricans

Jackson-Weiss Syndrome

Known Mutations of Jackson-Weiss Syndrome Related   Genes

Muenke Syndrome

Pfeiffer Syndrome

Known Mutations in Pfeiffer Syndrome Related Genes

Detection   of Congenital Craniosynostosis (6 Items)

 

◇ Mitochondrial Diseases ◇

 

Test Item

Sample Requirement

Methods

Clinical   Significance

Turn Around Time

MELAS Syndrome

(Mitochondrial   Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episode))

MELAS Related Hot-spot Mutations in mtDNA (A3243G, T3271C, C3093G, G3244A, A3252G, C3256T,   T3258C, A3260G, T3291C)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

MELAS Syndrome is a common type of mitochondrial encephalomyopathy, it is a maternal inheritic disease   caused by mutation in mtDNA. Gene detection can assist the diagnosis of MELAS Syndrome.  

Monday to Friday

7 Workdays

Leigh Syndrome Related Hot-spot Mutation Detection  

T8993G, T8993C, T9176C, T9176G, T9185C, A3243G

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Leigh syndrome (LS) (also called subacute   necrotizing encephalomyelopathy), is a severe, lethal nervous system genetic disease   caused by the defect of some energy metabolic enzymes. Its incidence is   approximately 1/40000, among them about 20% is maternal inherited. This   detection item analyzes 6 hotspot mutation sites related with maternal   inheritance, it can assist the diagnosis of Leigh Syndrome 

Monday to Friday

7 Workdays

MERRF Syndrome Related Hot-spot Mutation Detection

A8344G, T8356C, G8361A, G8363A

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

MERRF Syndrome is characterized by myoclonic seizures, epilepsy, cerebellar ataxia, lacticemia and ragged   red fibers (RRF), a small number of patients have malformations such as low   intelligence, dementia, sensorineural   deafness, dwarfism and clawfoot etc.  Electroencephalogram shows spike and slow wave   complex, muscle biopsy shows ragged red fibers (RRF), abnormal mitochondria and inclusion bodies. The   detection of 4 hotspot mutations causing MERRF syndrome will assist the diagnosis of MERRF syndrome.

Monday to Friday

7 Workdays

 

◇ Genetic Cardiovascular Diseases ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Hyperlipoproteinemia

Apolipoprotein E Gene Typing

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of Hyperlipoproteinemia related to 3 major isomers of   human apolipoprotein E, assess the risk of group having Hyperlipoproteinemia   family history.

Monday to Friday

5 Workdays

Familial Hypercholesterolemia

Whole Gene Analysis of LDLR

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Contribute to the diagnosis of untreated FH (LDL   and cholesterol increasing), differentially diagnose FH and Hyperlipoproteinemia induced by other causes,   such as familial defective apolipoprotein b100.

Monday to Friday

7 Workdays

Known Mutations of LDLR Gene

Hereditary Hemorrhagic Telangiectasia 

Whole Gene Analysis of ENG and ACVRL1

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of hereditary hemorrhagic   telangiectasia (HHT), including Type I and Type II, definitely diagnose   family member with specific mutations.

Monday to Friday

7 Workdays

Whole Gene Analysis of ENG

Known Mutations of ENG Gene

Monday to Friday

5 Workdays

Whole Gene Analysis of ACVRL1

Known Mutations of ACVRL1 Gene

Mutations of SMAD4 Gene

Hereditary Hemorrhagic Telangiectasia (3 Items)

Monday to Friday

7 Workdays

Loeys-Dietz Syndrome

Whole Gene Sequencing of TGFBR1

(9 Exons)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Differentially diagnose Loeys-Dietz Syndrome (LDS)and Marfan Syndrome (MFS), diagnose suspected   patients with LDS, MFS and familial Thoracic Aortic Aneurysm/Dissection   (TAAD) and the patients having family history of these diseases.

Monday to Friday

Whole Gene Sequencing-10 Workdays

Known Mutation Sequencing-7 Workdays

Whole Gene Sequencing of TGFBR2

(7 Exons)

Known Mutations of TGFBR1 Gene

Known Mutations of TGFBR2 Gene

Loeys-Dietz Syndrome Whole Gene Sequencing of TGFBR1 and TGFBR2

Monday to Friday

10 Workdays

 

◇ Hereditary Family Amyloidosis ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Transthyretin

Sequencing of TTR Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Contribute to the diagnosis of familial amyloidosis related with transthyretin   (TTR).

Monday to Friday

7 Workdays

Apolipoprotein A-I

Whole Gene Analysis of APOA1

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of hereditary amyloidosis.   Applicable to the diagnosis of the group suffered apolipoprotein A- I related   familial amyloidosis.

Monday to Friday

7 Workdays

Known Mutations in APOA1

Assist the diagnosis of hereditary amyloidosis.   Applicable to the diagnosis of the patients with hereditary and secondary   amyloidosis who have known mutations and have been affected.

Apolipoprotein A-II

Whole Gene Analysis of APOA2

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of hereditary amyloidosis.   Applicable to the diagnosis of the suspected group of apolipoprotein A-II   (APOA2) gene related familial amyloidosis.   

Monday to Friday

7 Workdays

Known Mutations in APOA2

Fibrinogen α

Chain

Whole Gene Analysis of FGA

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of fibrinogen α chain related   familial visceral amyloidosis. Applicable to the diagnosis of patients with   hereditary and secondary amyloidosis.

Monday to Friday

7 Workdays

Known Mutations in FGA Gene

Assist the diagnosis of hereditary amyloidosis.   Applicable to the group who have family history of fibrinogen α chain (FGA)   gene related familial visceral amyloidosis (familial mutations has been   detected)

Lysozyme

Whole Gene Analysis of LYZ Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of lyz gene related familial   visceral amyloidosis

Monday to Friday

7 Workdays

Known Mutations in LYZ Gene

Gelsolin

Whole Gene Analysis of GSN Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within   72h

PCR

Gene Sequencing

Assist the diagnosis of hereditary amyloidosis.   Applicable to the diagnosis of patients with hereditary and secondary   amyloidosis

Monday to Friday

7 Workdays

Known Mutations in GSN Gene

Assist the diagnosis of hereditary amyloidosis.   Applicable to the detection of group having amyloidosis family history.

 

◇ Rheumatic and Immuno-Deficiency Diseases ◇

 

Test Item

Sample Requirement

Methods

Clinical   Significance

Turn Around Time

X-Linked Hyper IgM Syndrome

Mutations of CD40L Gene (Exon1-5)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of X-Linked Hyper IgM Syndrome.

Monday to Friday

7 Workdays

Known Mutations of CD40L Gene

High IgE Syndrome(Job Syndrome)

Mutation of STAT3 Gene

(Exon3,10,13,14,15,16,20,21,22)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of High IgE Syndrome.

Monday to Friday

7 Workdays

Known Mutations of STAT3 Gene

X-Linked Agammaglobulinemia   (XLA)

Mutations of BTK Gene (Exon2-19)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist diagnosis:Patients who lack mature B cell, have decreased   immunoglobulin, and are repeatedly infected.

Monday to Friday

7 Workdays

Known Mutations of BTK Gene (Exon2-19)

Mutations of Severe Combined Immunodeficiency   Related Genes

Mutations of

IL-2RG,

IL-7RΑ and

JAK3 Genes

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist diagnosis, especially those patients who   have T cell and B cell deficiency and are repeatedly infected for a long   time.

Monday to Friday

7 Workdays

Mutations of X-Linked Chronic Granulomatous   Disease Related Gene CYBB

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of X-Linked Chronic   Granulomatous.

Monday to Friday

7 Workdays

 

◇ Rheumatic and Immuno-Deficiency Diseases ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Detection of Hepatolenticular Degeneration (Wilson’s Disease) Related Genes

ATP7B

(21 Exons)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Hepatolenticular degeneration is also called Wilson’s Disease (WD). It   is an autosomal recessive inherited disease characteristic by metabolic   disorder of copper. Gene detection can not only assist the diagnosis of Wilson’s   Disease, but also screen the immediate family members.

Monday to Friday

7 Workdays

Hot-spot Mutations of ATP7B Gene

(Exon8, 12, 13, 16)

Assist the early diagnosis of Hepatolenticular Degeneration (Wilson’s Disease).   For the immediate family members whose mutations have been detected,   haplotype analysis and specific mutation analysis may be applied to them.

Monday to Friday

5 Workdays

Known Mutations of ATP7B Gene

Assist the early diagnosis of Hepatolenticular degeneration (Wilson’s Disease),   screen the immediate family members.

Ceruloplasmin(CER)

Serum 2ml

Normal temperature in 8h

Or 4℃ in 7d

Or -20℃ in 1m

Scattering Turbidimetry

Increasing indicates inflammation, injury, myocardial infarction,   infection, tumor, etc. Assist the diagnosis of hepatolenticular degeneration   (Wilson’s Disease).

Monday

/Wednesday

/Friday

2 Workdays

Citrin Deficiency

Hot-spot Mutations of SLC25A13 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of Citrin Deficiency (including two different   phenotypes, adult-onset citrullinemia Type II and neonatal intrahepatic   cholestasis caused by Citrin Deficiency).

Monday to Friday

5 Workdays

Detection of Gaucher Disease Related Genes

Sequencing of GBA Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of gaucher disease and   distinguish it with other common diseases causing pathogenic changes in   spleen, such as Niemann-Pick Disease, Fucosidosis, Hurler Syndrome, Leukemia,   Hodgkin’s disease etc.

Monday to Friday

7 Workdays

Hyperbilirubinemia /Gilbert Syndrome

Whole Gene Sequencing of UGT1A1 Gene

Peripheral blood: Adult 3-5ml/ Child 1ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assess the individual risk of Hyperbilirubinemia and screen the carrier, assist the diagnosis of Gilbert Syndrome   and Crigler-Najjar Syndrome

Monday to Friday

10 Workdays

Detection   of Intrahepatic Cholestasis Related Genes

(Type PFIC-1)

ATP8B1

(27 Exons)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the early diagnosis of   progressive familial intrahepatic cholestasis (Type PFIC-1), benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of   pregnancy.

Monday to Friday

7 Workdays

ATP8B1

(8 Exons and Adjacent Region)

Monday to Friday

5 Workdays

Detection of Intrahepatic Cholestasis   Related Genes (Type PFIC- 2)

ABCB11

(27 Exons)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the early diagnosis of   progressive familial intrahepatic cholestasis (Type PFIC-2), benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of   pregnancy.

Monday to Friday

7 Workdays

ABCB11

(10 Exons and Adjacent Region)

Monday to Friday

5 Workdays

Detection of Intrahepatic Cholestasis   Related Genes (Type PFIC-3)

ABCB4 (27 Exons)

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the early diagnosis of   progressive familial intrahepatic cholestasis (Type PFIC-3), benign   recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.  

Monday to Friday

7 Workdays

ABCB4

(8 Exons and Adjacent Region)

Monday to Friday

5 Workdays

Mutations of Congenital Intrahepatic Bile Ducts   Dysplasia Related Gene JAG1

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Assist the diagnosis of congenital intrahepatic bile   ducts dysplasia

Monday to Friday

5 Workdays

 

◇ Genetic Diseases of Respiratory System ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Package of Diffused Interstitial Lung Disease in   Infant

 (8 Items)

SFTPB, SFTPC, ABCA3,

TTF-1NKX2.1, CSF2RA, CSF2RB,   SLC7A7, FOXF1

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

Next-Generation Sequencing

Detect the genes related with inborn errors of   surfactant metabolism(IESM), assist the diagnosis of diffused interstitial   lung disease in infant.

Monday to Friday

7 Workdays

 

◇ Genetic Diseases of The Digestive System ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Congenital Megacolon

Mutations of RET Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Detect the coding region of ret gene by sequencing, provide evidence for   diagnosis of congenital megacolon (Hirschsprung's Disease, HD).

Monday to Friday

7 Workdays

Peutz-Jeghers   Syndrome

Mutations of STK11 Gene

Germ-line mutation of STK11gene is the molecular basis of PJS, it is an   important pathogenic gene of PJS, detection of mutations of STK11 can assist   the diagnosis of PJS.

 

◇ Other Genetic Diseases ◇

 

Test Item

Sample   Requirement

Methods

Clinical   Significance

Turn Around Time

Li-Fraumeni Syndrome /Screening for Mutations of Tumor Suppress Gene   TP53

TP53 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

And

Peripheral blood 3-5ml

EDTA anticoagulation tube

Paraffin Section, Paraffin Block, Paraffin Volume or   Fresh Tissue

PCR

Gene Sequencing

1. Li-Fraumeni Syndrome,   (LFS) is a rare autologous   dominant genetic disease. It is caused by mutation of TP53 inherited from   parents or occurred in embryonic cells. Patients of this syndrome are highly   susceptible to various tumors and cancers. Detection of mutations in TP53   gene will contribute to the diagnosis of Li-Fraumeni Syndrome; 2. Tp53 is an important tumor suppress   gene. The loss of function of Tp53 will cause genome instability, thus cause   cell transformation and carcinogenesis. So, it is an evaluation index of   tumor. Detection of mutation in Tp53 gene will contribute to early detection   of tumors and can be used to screen tumor high risk group.

Monday to Friday

7 Workdays

Known Mutations of TP53 Gene

Monday to Friday

5 Workdays

Retinoblastoma

Mutations of RB1 Gene

Peripheral blood 3-5ml

EDTA anticoagulation tube

4℃,delivered for testing within 72h

PCR

Gene Sequencing

Retinoblastoma (RB)is the most common intraocular malignant tumor in   children. Detection of mutations in RB1 gene will distinguish hereditary   retinoblastoma and non-hereditary retinoblastoma effectively.

Monday to Friday

7 Workdays

Genetic Disease Tests