| 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 |
