IVF

Assisted Reproductive Technology a growing need in society. About 30% couple today seek aid of IVF clinic for a healthy child. Newer technologies and better understanding of the cause of infertility is crucial in this process. Genetic report delivers a precise understanding of the situation and helps clinicians to select the future course of treatment line.

GeneXplore Diagnosis and Research Centre, thriving to deliver the best of technologies for better understanding and go to the root of clinical manifestation. Couple karyotype has been introduced as screening for every infertile couple to rule out balanced translocation even before single cycle failure. Selective male and female infertility panel aids clinician to narrow down on the cause of infertility. PGS/PGD have proved to improve the success rate of IVF cycles by 30% and playing crucial role in reducing genetic disorder burden from society.

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Clinical Services

Research Services

Karyotyping

Test CodeTestSAMPLECONTAINER TYPETAT
K001Peripheral blood cells For Karyotyping [Single]Peripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K002Peripheral blood cells For Karyotyping [Couple]Peripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K003Fetal Blood Sample For KaryotypingPeripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K004Products Of Conception [POC]Placental tissueBits of Placental Tissue in sterile tissue culture container with normal saline or culture media15-20 days
K006Amniotic Fluid [AF]Amniotic fluid2 leak proof Sterile Tubes (15 ml each)15-20 days
K007Fragile X AnalysisPeripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K008Fragile X Analysis (Prenatal)Chorionic villi/ Amniotic fluidBits of chorionic tissue in Sterile culture container with normal saline or culture media / 2 leak proof Sterile Tubes (15 ml each)15-20 days
K009High Resolution Chromosome StudyPeripheral bloodSodium heparin Vacutainer (2ml)7-8 days
K011Chorionic Villus Sample [CVS]Chorionic villiBits of chorionic Tissue Sterile tissue culture container with normal saline or culture media15-20 days
K012Cord blood sample (Abortus and prenatal)Cord BloodSodium Heparin Vaccutainer (2ml)7-8 days

FISH Investigation

Test CodeTestSAMPLECONTAINER TYPETAT
F012Del(20q) [MDS]Bone marrow / Peripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F013Del(5q) [MDS]Bone marrow / Peripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F014Del(7q) [MDS]Bone marrow / Peripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F01617p(p53)Bone marrow / Peripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F01711q(ATM)Bone marrow / Peripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F018Prader-Willi SyndromePeripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F019William's SyndromePeripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F020Di-George SyndromePeripheral bloodSodium heparin Vacutainer (2ml)5-6 days
F021CHROMOSOMES [13, 18, 21, X & Y]Amniotic fluidSterile container (20ml) 5-6 days
Chorionic villiSterile Container
BloodHeparin vacutainer (2ml)
F022Single Chromosome FISHAmniotic fluidSterile container (20ml) 5-6 days
(13/18/21/X/Y)Chorionic villiSterile Container
BloodHeparin vacutainer (2ml)

Male Infertility

Test CodeTestSAMPLECONTAINER TYPETAT
MI001Y Chromosome Micro-deletionPeripheral bloodEDTA vacutainer (2ml)4-5days
MI002Sperm DNA fragmentationSemen SampleSterile Container4-5days

REAL Time PCR

Test CodeTestSAMPLECONTAINER TYPETAT
C006TORCH PCRBone marrow / Peripheral bloodEDTA vacutainer (2ml)5-6 days

Conventional PCR Study and Gel and Sequencing Based Detection

Test CodeTestSAMPLECONTAINER TYPETAT
P001β-Thalassemia Amniotic fluid / Chorionic villi / BloodSterile container (20ml)/ Sterile Normal Saline Container / EDTA vacutainer (2ml)4-5days
Five common mutations (IVS 1-5 G>C, IVS 1-1 G>T, 619 bp deletion, FS 8/9 +G, FS 41/42 – CTTT)
P002Fragile X SyndromePeripheral bloodEDTA vacutainer (2ml)10-15days
Southern Blot based analysis for FRAXA locus using EcoRI, PstI, and EcoRI+EagI digestion
P003Glucose 6 phosphate dehydrogenasePeripheral bloodEDTA vacutainer (2ml)6-7days
Orissa, Mediterranean and kerala kalian mutaions
P004Hemophilia-A Peripheral bloodEDTA vacutainer (2ml)10-15 days
Intron-22 inversion by Southern Blot analysis & Carrier analysis @ markers (BclI & XbaI RFLP)
Hemophilia-B
Carrier analysis @ intragenic markers (HhaI, DdeI, TaqI)
P005Spinal Muscular Atrophy Peripheral bloodEDTA vacutainer (2ml)6-7days
·    Deletion analysis (exon7 & 8 only)
·    Carrier analysis using MLPA
P006MTHFR gene polymorphisms Peripheral bloodEDTA vacutainer (2ml)10 days
677T>C and 1298A>C mutations
P007Duchenne and Becker Muscular Dystrophy Peripheral bloodEDTA vacutainer (2ml)6-7days
·    Deletion analysis for exons 24 & 79 by MLPA analysis
P008Cystic fibrosis Peripheral bloodEDTA vacutainer (2ml)6-7days
Four common mutations (dF508, G542X, G551D, R553X) and 5T
P009Non-Syndromic Hearing Loss (NSHL) Peripheral bloodEDTA vacutainer (2ml)10 Days
Connexin 26 (GJB2) exon 2 screening
P011Mitochondrial encephalopathy Peripheral bloodEDTA vacutainer (2ml)10 Days
Leigh's Disease (LD)
P012Mitochondrial encephalopathy Peripheral bloodEDTA vacutainer (2ml)10 Days
LHON panel

Infectious Disease PCR

Test CodeTestSample typeTAT
ID001CMV DNA PCREDTA vacutainer (2ml)2-3 Days
ID002CMV Quantitative Real Time PCREDTA vacutainer (2ml)3-4 Days
ID010Herpes SimplexEDTA vacutainer (2ml)2-3 Days
ID011Human Papilloma Virus (HPV) with LBCEDTA vacutainer (2ml)2-3 Days
ID012TB DNA PCR Qualitative (Real Time PCR)EDTA vacutainer (2ml)1-2 Days
ID013HIV Proviral DNA PCREDTA vacutainer (2ml)2-3 Days
ID014HIV-1 Quantitative Real Time PCREDTA vacutainer (2ml)3-4 Days
ID015HIV GenotypingEDTA vacutainer (2ml)10-15 days`

Microarray Analysis

Test CodeTestSample typeTAT
MC001Chromosomal Micaroarray Analysis (array CGH) 8X60kAmniotic Fluid15days
(20ml)
MC002Chromosomal Micaroarray Analysis (array CGH) 8X60kProduct of Conception (15ml sterile tube)15days
MC003Chromosomal Micaroarray Analysis (array CGH) 8X60kPeripheral Blood15days
(4ml in EDTA vaccutainer)
MC004Pre-implantation Genetic Screening (PGS) 8X60kBlastomere (ONE or TWO) in Kit provided by Centre48hours
(Embryo Biopsy)
Minimum four Biopsy per Patient
MC005Pre-implantation Genetic Screening (PGS) 8X60kBlastocyst Biopsy (Trophectoderm) in Kit provided by Centre7-12 days
(Embryo Biopsy)
Minimum four Biopsy per Patient
MC006Array CGH + SNP analysisAll type of Biological samples30days

NEXT GENERATION SEQUENCING BASED Analysis

Test CodeTestSample typeTAT
CANCER PANELS
NG002Breast Carcinoma PanelSaliva sample/EDTA Blood/Tissue15days
NG005Comprehensive Cancer Panel (Germline Panel)Saliva sample/EDTA Blood/Tissue4 – 6 weeks
CLINICAL EXOME  TEST
NG016Clinical Exome Test covers 4800 genes associated with known clinical phenotypesSaliva sample/EDTA Blood/Tissue8 - 10 weeks

Package Genetic Diagnosis

Test CodeTest
PAC-01Male Infertility
Karyotyping (K001)
Y chromosome microdeletion (MI001)
Sperm DNA fragmentation (MI002)
PAC-02Female Infertility
Karyotyping (K001)
FMR1 Gene Muataion Analysis
FSH R Gene Mutation Analysis
Cyp21A2
PAC-03Amniotic Fluid
Karyotyping (K006)
FISH 5 chromosomes (F021)
ACGH- Microarray (MC001)
PAC-04Amniotic Fluid
Karyotyping (K006)
FISH 5 chromosomes (F021)
PAC-05Product of Conception
Karyotyping (K004)
FISH 5 chromosomes (F021)
ACGH- Microarray (MC002)
PAC-06Product of Conception
Karyotyping (K004)
FISH 5 chromosomes (F021)
PAC-08Chorionic Villus Sample
Karyotyping (K0011)
FISH 5 chromosomes (F021)
ACGH- Microarray (MC002)
PAC-09Chorionic Villus Sample
Karyotyping (K0011)
FISH 5 chromosomes (F021)

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