Genopath

SR NOTESTTEST COMPONENTSMETHODSPECIMEN/TRANSPORTTATCLINICAL APPLICATIONS
1Ophthalmology/ Ocular Disease PanelPanel of Genes will be shared on requestNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysEstablishing 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.
2Inherited metabolic diseases PanelPanel of Genes will be shared on requestNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis 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.
3Collagen related Disorders PanelPanel of Genes will be shared on requestNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis 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.
4Ehler Danlos Syndrome PanelEhlers-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 SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis 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.
5Epidermolysis Bullosa Simplex Panelcoding region and intron-exon boundaries of genes EXPH5, TGM5, KRT5, KRT14, PLEC, LAMB3, COL17A1, LAMC2 and LAMA3 associated with Epidermolysis bullosa.Next-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis 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.
6Primary Ciliary Dyskinesia Panelcoding 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 dyskinesiaNext-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis 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.
7Alagille syndromeCoding region and certain intronic padding region of the JAG1 and NOTCH2 genes associated with Allagile Syndrome.Next-Generation SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis 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.
8Progressive 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 SequencingPreferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration20 daysThis 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.
9Cystic Fibrosis (CFTR)Coding region and certain intronic padding region of the CFTR geneNext-Generation SequencingWhole blood 3ml in EDTA vacutainer20 daysThis 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.
10Marfan SyndromeCoding region along with certain intronic padding of the FBN1 gene to check for the presence of mutations associated with Marfan SyndromeNext-Generation SequencingEDTA Blood/Amniotic Fluid/ CVS20 daysThis 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.
11Δ 508 CFTR mutation-Cystic FibrosisTargeted 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 SequencingWhole blood 3ml in EDTA vacutainer7 daysThis 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.
12UGT1A1 Analysis (promoter)- Gilbert SyndromePromoter and codons 71 & 486 of UGT1A1 geneSanger SequencingWhole blood 3ml in EDTA vacutainer7 daysThis 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.
13HFE gene mutation analysis - HemochromatosisAll exons of HFE with 5'UTRSanger SequencingWhole blood 3ml in EDTA vacutainer10 daysThis 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.
14HFE (2 mutations)- HemochromatosisC282Y and H63DSanger SequencingWhole blood 3ml in EDTA vacutainer7 daysThis 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.
15CYP2D6 (Cytochrome P450 2D6) AnalysisSanger SequencingWhole blood 3ml in EDTA vacutainer7 daysAssess genetic risk of abnormal drug metabolism for drugs metabolized by CYP2D6
16HLAB*57:01 genotype AnalysisAbacavir sulfate is a nucleoside reverse transcriptase inhibitor (NRTI) used for the treatment of HIV.PCRWhole blood 3ml in EDTA vacutainer3 daysHypersensitivity 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.
17DPYD genotyping- 5 Fluorouracil metabolismTargeted mutation in DPYD geneSanger SequencingWhole blood 3ml in EDTA vacutainer7 days5-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.
18Thiopurine methyltransferase (TPMT)Exon 3, 5, 8Sanger SequencingWhole blood 3ml in EDTA vacutainer7 daysTPMT activity is inherited as a monogenic co-dominant trait. Itmethylatesazathioprine, mercaptopurine (MP) and thioguanine causing an inverse relationship between TPMT activity andconcentrations of active thioguanine nucleotide (TGN) metabolites. With conventional doses of thiopurines, individuals(~1 in 178 to 1 in 3,736) who inherit two inactive 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.
19Creutzfeld jacon diasease (CJD) mutation assayPRNP geneSanger SequencingWhole blood 3ml in EDTA vacutainer7 daysEnolase 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)
20Hereditary Pancreatitis Panel (PRSS1 & SPINK1)Targeted Mutations in PRSS1,SPINK2 and SPINK1 GeneSanger SequencingEDTA whole blood (3ml)20 DaysThis 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.
21Mitochondrial DNA SequencingMitochondrial GenesNext-Generation SequencingWhole blood 3ml in EDTA vacutainer20 DaysThis 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.
22Crigler Najjar Syndrome Type I & IIUGT1A1 GeneNext Generation SequencingWhole blood 3ml in EDTA vacutainer20 DaysExcess 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.