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Test Name Test Code Specimen Schedule TAT Division
17 Hydroxyprogesterone (17-OHP) BG1001 Serum (YCT) Daily 2 days Biochemical Genetics
Achondroplasia Mutation Analysis (FGFR3) MG3001 5ml Blood in K2 EDTA Tube (LCT) Daily 15 days Molecular Genetics
Acute Intermittent Porphyria SP5002 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 5 weeks Advanced Genomics
ADRB2 Gentoyping for Beta-2 Agonist Responsiveness MG3101 5ml Blood in K2/K3 EDTA Tube (LCT) Fri 8 days Molecular Genetics
Alkaptonuria Qualitative, Urine BG1003 Morning Urine (SCT) Daily 5 days Biochemical Genetics
Alpha 1 Antitrypsin Genotype Analysis (Z, X , M Mutations) MG3003 5ml Blood in K2 EDTA Tube (LCT) Fri 15 days Molecular Genetics
Alpha Thalassemia PCR MG3005 5ml Blood in K2 EDTA Tube (LCT) Sat 15 days Molecular Genetics
AneuFiSH-1 Marker Chromosome 21 Aneuploidy Screen (VB) CG2003 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-1 Markers Chromosome 13 Aneuploidy Screen (CB) CG2004 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-1 Markers Chromosome 13 Aneuploidy Screen (VB) CG2006 2 ml Fetal, Cord Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-1 Markers Chromosome 18 Aneuploidy Screen (CB) CG2007 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-1 Markers Chromosome 18 Aneuploidy Screen (VB) CG2009 2 ml Fetal, Cord Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-3 Markers Chromosome 13, 18, 21 Aneuploidy Screen (CB) CG2011 2 ml Fetal, Cord Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-3 Markers Chromosome 13, 18, 21 Aneuploidy Screen (POC) CG2013 POC in Sterile Container having Saline+5 drops Gentamycin Daily 7 days Cytogenetics
AneuFiSH-3 Markers Chromosome 13, 18, 21 Aneuploidy Screen (VB) CG2012 2 ml Fetal, Cord Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-5 Markers Chromosomal 13, 18, 21, X, Y Aneuploidy Screen (CB) CG2015 2 ml Fetal, Cord Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
AneuFiSH-5 Markers Chromosomal 13, 18, 21, X, Y Aneuploidy Screen (VB) CG2063 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 7 days Cytogenetics
Angelman Syndrome Methylation PCR MG3106 5ml Blood or 3 ml Bone Marrow in K2/K3 EDTA Tube (LCT) Fri 15 days Molecular Genetics
ATN1 Trinucleotide Repeat Analysis (DRPLA-Dentatorubral-pallidoluysian atrophy) MG3008 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
Beta Thalassemia Molecular Analysis (Beta globin (HBB) gene sequencing) MG3009 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
Beta-thalassemia 5 Mutation Analysis MG3010 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
Chromosomal Analysis - Karyotyping (CF) CG2016 10-15 ml of Cystic Fluid in Sterile Culture Tube (SCT) Daily 21 days Cytogenetics
Chromosomal Analysis - Karyotyping (CB) CG2019 2mL Fetal or Cord Blood Sod.Heparin Tube (GCT) Daily 15 days Cytogenetics
Chromosomal Analysis - Karyotyping (VB) CG2021 5 mL Venous blood in Sod. Heparin Tube (GCT) Daily 15 days Cytogenetics
Chromosomal Analysis HR Karyotyping (High Resolution Banding) CG2023 5 mL Blood Sod.Heparin Tube (GCT) Daily 21 days Cytogenetics
Chromosomal Breakage Analysis CG2025 5 mL Blood Sod. Heparin Tube (GCT) Daily 21 days Cytogenetics
Combi Chromosomal Analysis Karyotype & FISH Aneuploidy (Chr 13, 18, 21, X, Y) (VB) CG2027 5 ml Blood Sod. Heparin Tube (GCT) Daily FISH-7 days & KT 21 days Cytogenetics
Combi Chromosomal Analysis Karyotype & FISH Aneuploidy (Chr 13, 18, 21, X, Y) (CB) CG2029 2 ml Fetal or Cord Blood Sod. Heparin Tube (GCT) Daily FISH-7 days & KT 15 days Cytogenetics
Cystic Fibrosis - CFTR Single Mutation Test (DeltaF508) MG3018 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 7 days Molecular Genetics
DMD Mutation Screening 24 Exons (For Symptomatic Male Samples) MG3020 5 ml Blood in K2/K3 EDTA Tube (LCT) Tue, Fri 15 days Molecular Genetics
FISH SRY Gene Deletion (Yp11.3) CG2033 5 ml Venous Blood or 2 ml Fetal, Cord Blood Sod. Heparin Tube (GCT) Daily 9 days Cytogenetics
Fragile X Repeat Expansion Analysis MG3026 5 ml Blood in K2/K3 EDTA Tube (LCT) Tue, Fri 3 weeks Molecular Genetics
Friedreich's Ataxia Repeat Expansion Analysis MG3025 5 ml Blood in K2/K3 EDTA Tube (LCT) daily 15 days Molecular Genetics
HADHA Mutation Analysis MG3033 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 7 days Molecular Genetics
HBB Beta Globin Full Gene Sequence Analysis MG3034 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
Hemoglobin D Mutation (Iran / Punjab) MG3035 5 ml Blood in K2/K3 EDTA Tube (LCT) Mon, Wed 10 days Molecular Genetics
Hemoglobin E Mutation Analysis Blood MG3036 5 ml Blood in K2/K3 EDTA Tube (LCT) Mon, Wed 10 days Molecular Genetics
Hereditary Hemochromatosis (HFE) Three Mutation Analysis MG3037 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
HLA-B27 Genotyping Analysis (Ankylosing Spondylitis) MG3043 5ml Blood in K2/K3 EDTA Tube (LCT) Mon, Fri 7 days Molecular Genetics
Huntington Disease Mutation Analysis MG3045 5 ml Blood in K2/K3 EDTA Tube (LCT) Mon 15 days Molecular Genetics
mdsFISH - Microdeletion DiGeorge-VCFS (22q) (POC) CG2035 POC in Sterile Specimen Container (SSC) having Saline+5 drops gentamycin Daily 10 days Cytogenetics
mdsFiSH - Microdeletion DiGeorge-VCFS (22q) (VB) CG2036 2 ml Fetal/ Cord Blood Sod. Heparin Tube (GCT) Daily 10 days Cytogenetics
mdsFiSH - Microdeletion Miller Dieker Syndrome (17p13.3) (VB) CG2038 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 15 days Cytogenetics
mdsFiSH - Microdeletion Smith-Magenis (17p11.2) (VB) CG2040 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 15 days Cytogenetics
mdsFISH - Microdeletion Williams syndrome (7q11.2) (VB) CG2042 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 15 days Cytogenetics
mdsFISH - Microdeletion Wolf-Hirchhorn Syndrome (4p16 ) (VB) CG2044 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 15 days Cytogenetics
mdsFiSH-Microdeletion Prader Willi / Angelman Syndrome (15q) (POC) CG2046 POC in Sterile Specimen Container (SSC) having Saline+5 drops gentamycin Daily 10 days Cytogenetics
mdsFiSH-Microdeletion Prader Willi / Angelman Syndrome (15q) (VB) CG2047 5 ml Venous Blood Sod. Heparin Tube (GCT) Daily 15 days Cytogenetics
MITO - Leigh syndrome Target Mutation Analysis MG3115 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 3 weeks Molecular Genetics
MITO - LHON Target Mutation Analysis (Leb Hered Optic atrophy ) MG3116 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 3 weeks Molecular Genetics
MITO - MELAS Target Mutation Analysis MG3117 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
MITO - MERRF Target Mutation Analysis (MT-TK - m.8344A>G) MG3118 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
MITO-NARP Target Mutation Analysis (Neuropathy, ataxia, and retinitis pigmentosa) MG3119 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
MTHFR Two Mutation Test (C677T & A1298C) MG3055 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 7 days Molecular Genetics
Myotonic dystrophy (DM) Molecular Analysis MG3056 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
Nonsyndromic Hearing loss Mutation Analysis (Connexin-26) MG3120 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
NPM1 Mutation Analysis MG3057 5 ml Blood or 3 ml Bone marrow in K2/K3 EDTA Tube (LCT) Wed, Sat 5 days Molecular Genetics
Praderwilli Syndrome Methylation PCR MG3122 5ml Blood in K2/K3 EDTA Tube (LCT) Fri 15 days Molecular Genetics
RETT Syndrome Molecular Anaysis (MECP2 Gene Sequencing) MG3123 5ml Blood in K2/K3 EDTA Tube (LCT) Sat 12 days Molecular Genetics
SBMA (Spinobulbar Muscular Atrophy) Molecular Analysis MG3065 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-1 Mutation Analysis (SpinoCerebellar Ataxia) MG3066 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-10 Mutation Analysis (SpinoCerebellar Ataxia) MG3072 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-12 Mutation Analysis (SpinoCerebellar Ataxia) MG3073 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-17 Mutation Analysis (SpinoCerebellar Ataxia) MG3074 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-2 Mutation Analysis (SpinoCerebellar Ataxia) MG3067 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-3 Mutation Analysis (SpinoCerebellar Ataxia) MG3068 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-6 Mutation Analysis (SpinoCerebellar Ataxia) MG3069 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-7 Mutation Analysis (SpinoCerebellar Ataxia) MG3070 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
SCA-8 Mutation Analysis (SpinoCerebellar Ataxia) MG3071 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 15 days Molecular Genetics
Sickle Cell Anemia Mutation Analysis MG3075 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 7 days Molecular Genetics
Spinal Muscular Atrophy (SMA1) Exon 7 Del/Dup Analysis MG3076 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 2 weeks Molecular Genetics
SPINK1 Mutation Analysis [N34S] MG3083 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 7 days Molecular Genetics
SRY PCR for Ambiguous Genitalia MG3077 5ml Blood in K2/K3 EDTA Tube (LCT) Daily 7 days Molecular Genetics
TRY Mutation Analysis (R278X) (Oculocutaneous Albinism (OCA) type-I) MG3089 5 ml Blood in K2/K3 EDTA Tube (LCT) Daily 10 days Molecular Genetics
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