Genopath

SR NO TEST TEST COMPONENTS METHOD SPECIMEN/TRANSPORT TAT CLINICAL APPLICATIONS
1 Ophthalmology/ Ocular Disease Panel Panel of Genes will be shared on request Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days Establishing a definitive molecular diagnosis of several ophthalmolgical disorders with overlapping clinical symptoms Obtaining genetic diagnoses for patients with these disorders is increasingly desired because this information can influence patient care by both informing genetic risk assessment and identifying patients who would benefit from novel gene-based therapies. It can help idetify causative mutations for carrier screening for high risk individuals or family meembers and Pretal screening.
2 Inherited metabolic diseases Panel Panel of Genes will be shared on request Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This test is used to screen for mutations in the genes responsible for inherited metabolic disorders. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
3 Collagen related Disorders Panel Panel of Genes will be shared on request Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This test is used to screen for mutations in the genes responsible for CRDP. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
4 Ehler Danlos Syndrome Panel Ehlers-Danlos Syndrome,
Classic Type (Types I and II) - COL5A1 or COL5A2
hypermobility type - TNXB
vascular type - COL3A1
kyphoscoliosis type - PLOD1
arthrochalasia type - COL1A1 or COL1A2
dermatosparaxis type - ADAMTS2
Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This test is used to screen for mutations in the genes responsible for EDSP. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
5 Epidermolysis Bullosa Simplex Panel coding region and intron-exon boundaries of genes EXPH5, TGM5, KRT5, KRT14, PLEC, LAMB3, COL17A1, LAMC2 and LAMA3 associated with Epidermolysis bullosa. Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This test is used to screen for mutations in the genes responsible for EBSP. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
6 Primary Ciliary Dyskinesia Panel coding region and intron-exon boundaries of genes DNAH5, DNAH11, CCDC39, DNAI1, CCDC40, CCDC103, SPAG1, ZMYND10, ARMC4, CCDC151, DNAI2, RSPH1, CCDC114, RSPH4A, DNAAF1, DNAAF2, LRRC6 ,C21orf59, CCDC65, DNAAF3, DNAAF4, DNAAF5, DNAH8, DRC1, HYDIN, NME8, OFD1, RPGR, RSPH9, ZMYND10 associated with primary ciliary dyskinesia Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This test is used to screen for mutations in the genes responsible for PCDP. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
7 Alagille syndrome Coding region and certain intronic padding region of the JAG1 and NOTCH2 genes associated with Allagile Syndrome. Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This test is used to screen for mutations in the genes responsible for ALGS. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
8 Progressive familial intrahepatic cholestasis mutation analysis (PFIC1&2) Coding region and certain intronic padding region of the ATP8B1 (PFIC1) and ABCB11 (PFIC2) genes associated with Progressive familial intrahepatic cholestasis. Next-Generation Sequencing Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration 20 days This test is used to screen for mutations in the genes responsible for PFIC12. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
9 Cystic Fibrosis (CFTR) Coding region and certain intronic padding region of the CFTR gene Next-Generation Sequencing Whole blood 3ml in EDTA vacutainer 20 days This test is used to screen for mutations in the genes responsible for CFTR. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
10 Marfan Syndrome Coding region along with certain intronic padding of the FBN1 gene to check for the presence of mutations associated with Marfan Syndrome Next-Generation Sequencing EDTA Blood/Amniotic Fluid/ CVS 20 days This test is used to screen for mutations in the genes responsible for FBN1. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
11 Δ 508 CFTR mutation-Cystic Fibrosis Targeted Coding region of CFTR gene containing the most commonly documented mutation delF508 (also known as ΔF508) and region of CFTR subsequent, which is associated with Cystic Fibrosis. Sanger Sequencing Whole blood 3ml in EDTA vacutainer 7 days This test is used to screen for mutations in the genes responsible for DCFTR. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
12 UGT1A1 Analysis (promoter)- Gilbert Syndrome Promoter and codons 71 & 486 of UGT1A1 gene Sanger Sequencing Whole blood 3ml in EDTA vacutainer 7 days This test is used to screen for mutations in the genes responsible for GSPR. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
13 HFE gene mutation analysis - Hemochromatosis All exons of HFE with 5'UTR Sanger Sequencing Whole blood 3ml in EDTA vacutainer 10 days This test is used to screen for mutations in the genes responsible for HFE. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
14 HFE (2 mutations)- Hemochromatosis C282Y and H63D Sanger Sequencing Whole blood 3ml in EDTA vacutainer 7 days This test is used to screen for mutations in the genes responsible for THFE. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation.
15 CYP2D6 (Cytochrome P450 2D6) Analysis Sanger Sequencing Whole blood 3ml in EDTA vacutainer 7 days Assess genetic risk of abnormal drug metabolism for drugs metabolized by CYP2D6
16 HLAB*57:01 genotype Analysis Abacavir sulfate is a nucleoside reverse transcriptase inhibitor (NRTI) used for the treatment of HIV. PCR Whole blood 3ml in EDTA vacutainer 3 days Hypersensitivity to abacavir has been strongly associated
with the major histocompatibility complex class I human leukocyte antigen (HLA), specifically the HLA-B*57:01
allele. Positive.HLA-B*57:01 heterozygous or homozygous
Predicts significantly increased risk for abacavir hypersensitivity. Avoidance or discontinuation of abacavir is advised
Negative HLA-B*57:01 not detected. Predicts no increased risk for abacavir hypersensitivity.
17 DPYD genotyping- 5 Fluorouracil metabolism Targeted mutation in DPYD gene Sanger Sequencing Whole blood 3ml in EDTA vacutainer 7 days 5-Fluorouracil (5-FU) and it's orally administered prodrug, capecitabine, are fluoropyrimidine-based chemotherapeutic agents that are widely used for the treatment of colorectal cancer and other solid tumors.
18 Thiopurine methyltransferase (TPMT) Exon 3, 5, 8 Sanger Sequencing Whole blood 3ml in EDTA vacutainer 7 days TPMT activity is inherited as a monogenic co-dominant trait. Itmethylatesazathioprine, mercaptopurine (MP) and thioguanine causing an inverse relationship between TPMT activity andconcentrations of thioguanine nucleotide (TGN) metabolites. With conventional doses of thiopurines, individuals(~1 in 178 to 1 in 3,736) who inherit two in TPMT alleles(homozygous deficient) universally experience severe myelosuppression; a high proportion of those who are heterozygous show moderate to severe myelosuppression, and those who are homozygous for wild-type TPMT alleles have lower levels of TGN metabolites and consequently a lower risk of myelosuppression.
19 Creutzfeld jacon diasease (CJD) mutation assay PRNP gene Sanger Sequencing Whole blood 3ml in EDTA vacutainer 7 days Enolase is a glycolytic enzyme that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate. Enolase exists in the form of several tissue-specific isoenzymes, consisting of homo or heterodimers of 3 different monomer-isoforms (alpha, beta, and gamma)
20 Hereditary Pancreatitis Panel (PRSS1 & SPINK1) Targeted Mutations in PRSS1,SPINK2 and SPINK1 Gene Sanger Sequencing EDTA whole blood (3ml) 20 Days This test is used to screen for the mutation in the PRSS1,SPINK2 and SPINK1 gene responsible for Hereditary Pancreatitis. Detection of pathogenic mutation in an individual can lead to a diagnosis, possible prognosis, and prospective therapy treatments.
21 Mitochondrial DNA Sequencing Mitochondrial Genes Next-Generation Sequencing Whole blood 3ml in EDTA vacutainer 20 Days This test utilise for many common disorder due to mutation in mitochondrial DNA,Such as Neurological problems like Seizures, Encephalopathy, Ataxia,Spasticity, Stroke-like episodes,apart from thses Loss of vision or earing, Liver, kidney, heart disease,Myopathy and muscle ,weakness. Common mitochondial syndroms, like Chronic progressive external ophthalmoplegia (CPEO),Kearns-Sayre syndrome (KSS),Leber hereditary optic neuropathy (LHON),Leigh syndrome (LS),Mitochondrial encephalomyopathy with Lactic acidosis and stroke-like episodes (MELAS), Myoclonic epilepsy with raggedred fibers (MERRF),Neurogenic weakness with ataxia and retinitis pigmentosa (NARP),Pearson syndrome.
22 Crigler Najjar Syndrome Type I & II UGT1A1 Gene Next Generation Sequencing Whole blood 3ml in EDTA vacutainer 20 Days Excess levels of bilirubin, which is a by-product of heme, have been associated with deleterious health effects. Uridine diphosphate (UDP)-glycuronosyl transferase 1A1 (UGT1A1) is responsible for bilirubin conjugation with glucuronic acid. This renders the bilirubin water soluble and permits excretion of the bilirubin-glucuronide conjugates in urine.(1) Genetic variants in UGT1A1 may cause reduced or absent UGT1A1 enzymatic activity resulting in hyperbilirubinemia.
SR NO TEST TEST COMPONENTS METHOD SPECIMEN/TRANSPORT TAT CLINICAL APPLICATIONS