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Genetics

Treatments & Procedures

  • Genetic counseling and evaluation of patients and families affected with a genetic/ inherited disease.
  • Genetic tests for diagnosis, predictive testing, screening and prenatal diagnosis of common genetic disorders (1000 tests including cytogenetic, molecular genetic, next-gen-sequencing, whole exome sequencing and chromosomal microarray)
  • Basic, applied and translational research in human and medical genetics
  • Teaching/ training undergraduate/ post graduate students in genetic techniques and guiding them in short research projects

 

Genetic Testing Services

Various genetic tests are available at the Department of Genetics at KFRC/ KIMS. Please find below a list for the same. The Genetic Department has collaborations with some specialized genetic testing laboratories for tests such as microarray analysis (for detection of small deletions and duplications), next-gen sequencing of multiple-gene panels (for various genetic conditions) and also caters to whole exome/ genome analysis in families with rare syndromes and difficult-to-diagnose conditions.

Hence, if you as a clinician or patient or family member are interested in a certain test that is not in the list below, feel free to contact out Chief geneticist, Dr. Pavani Upendram. For details about the turn-around-time, cost of test and discussion of cases, kindly call 040-44885053/ 5078/ 5166.

DNA isolation and banking


S.NoName of ServiceSample Requirement
1

From Blood sample - 

For patients likely to require molecular genetic testing, parents and siblings of probands, critically ill babies/ children with birth defects

4 ml Peripheral blood (EDTA)
2

From Fetal tissue/ Abortus material -

For recurrent pregnancy losses/ congenital malformations/ stillborn baby

20 mg/ml POC in saline/phosphate buffer saline

Genetic test-based prediction of drug response and adverse effects


S.noSample Requirement
Sample Requirement
1

Clopidogrel response Genotyping – 3 variants (CYP2C19, ABCB1) -

For the genetic prediction of antiplatelet resistance and the estimated tendency for ischemic or thrombotic events/ bleeding adverse reactions

4 ml Peripheral blood (EDTA)
2

Clopidogrel response Genotyping – 6 variants (CYP2C19, ABCB1) -

For the genetic prediction of antiplatelet resistance and the estimated tendency for ischemic or thrombotic events/ bleeding adverse reactions

4 ml Peripheral blood (EDTA)
3

Tacrolimus sensitivity genotyping - ABCB1 three variants -

For predicting drug response to Tacrolimus (an immunosuppressive drug used in transplant patients)

4 ml Peripheral blood (EDTA)
4

Warfarin/ Acenocoumarol Genotyping - 

Prediction of bleeding risk (F5, CYP2C9, VKORC1 variants, age factor) - For predicting bleeding risk in users of oral anticoagulants

4 ml Peripheral blood (EDTA)
5

Statin drug response Genotyping (CYP3A4, SLCO1B1) -

Prediction of statin therapeutic dose and risk of statin-induced myopathy

4 ml Peripheral blood (EDTA)


Single-gene Mendelian disorders


S.no
Sample Requirement
Sample Requirement
1

Noonan syndrome –

  • PTPN11 gene sequencing (15 exons)-  For diagnosis of Noonan syndrome in children with heart defect, chest deformity, short stature, typical facial appearance.
  • Mutations in PTPN11 are detected in > 50% of affected children
4 ml Peripheral blood (EDTA)
2

Factor V Leiden mutation-

For recurrent abortions and thrombosis predisposition

4 ml Peripheral blood (EDTA)
3

Factor II 20210 mutation -Prothrombin -

For recurrent abortions and thrombophilia predisposition

4 ml Peripheral blood (EDTA)
4

Cystic Fibrosis -

  • CFTR del508 common mutation.
  • For diagnosis and carrier testing of Cystic Fibrosis - For male infertility due to congenital absence of vas deferens (CBAVD)
4 ml Peripheral blood (EDTA)
5

APOE genotyping –

Three isoforms E2, E3, E4 - For risk of Alzheimer's disease/ Dementia and Type III hyperlipidemia

4 ml Peripheral blood (EDTA)
6

Thalassemia screening (HBB - 5 common mutations) -

For diagnosis and carrier testing of Beta Thalassemia

4 ml Peripheral blood (EDTA)
7

Cardiovascular disease risk – (MYBPC3 variant)-

For diagnosis and predictive testing of cardiovascular disease among Indians

4 ml Peripheral blood (EDTA)


Customized molecular genetic testing


S.no
Sample Requirement
Sample Requirement
1

Targeted mutation analysis -

Targeted mutation analysis or Single exon analysis for any known gene

4 ml Peripheral blood (EDTA)
2

Whole gene sequencing of any known disease-gene-

  • Including all coding exons and flanking intron regions.
  • Price varies depending on the length of genes and the number of exons
4 ml Peripheral blood (EDTA)


Next-Gen Sequencing (NGS)-based multi-gene panels


S.no
Sample Requirement
Sample Requirement

Disease-specific testing of sequencing of multiple genes -

  • Panels of multiple genes have been designed to help in differential diagnosis of common disorders.
  • Few such panels are for ataxia, muscular dystrophy, autism, spinal muscular atrophy, metabolic myopathy, progressive myoclonic epilepsy, infantile spasms, polycystic kidney disease, hereditary cancer syndromes, breast cancer panel, cardiomyopathies, sudden cardiac death, tuberous sclerosis, marfan syndrome, retinal degeneration
4 ml Peripheral blood (EDTA)






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Wednesday, October 26, 2016

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