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Reproductive and Women's Health

Clinical utility of genetic counseling and testing in reproductive health.
1. Preconception counseling creates awareness about genetic disorders and clarifies screening options in the general population.
2. Genetic counseling and testing is an essential part of the extended work-up of couples with infertility. and/or loss of pregnancy.
3. Results of preimplantation genetic screening (PGS) have the potential to significantly increase the chances of a successful pregnancy outcome in couples undergoing assisted reproduction techniques (ART).
4. In families with a history of genetic disorders, the results of preimplantation genetic diagnosis (PGD) and/or prenatal testing can be used to guide reproductive choices.

Test No.Test NameAnalytical TechniqueSample requiredTAT
RPDMLP304MLPA for Aneuploidies (all chromosomes) in Products of Conception (POC)MLPAProducts of Conception in Saline10 days
RPDSEQ391Y-Chromosome MicrodeletionsAFLP/ Fragment AnalysisBlood in EDTA5 days
HAESEQ031Full HBB gene sequencing for beta ThalassemiaNGSBlood in EDTA4-5 weeks
HAESEQ034Full HBB gene sequencing for beta Thalassemia + HPLCNGS + HPLCBlood in EDTA3-4 weeks
HAESEQ031Targeted (known) mutation detection in HBB gene with Maternal Cell Contamination (MCC) for Prenatal samplesCE-Seq/ ARMS PCR + Fragment analysisAntenatal sample (CVS, Amniotic Fluid)10 days
HAEPCR396Detection of IVS1-5 G>C mutation in HBB geneARMS real time PCRBlood in EDTA, Antenatal sample2-3 days
HAESEQ397Targeted (known) sequencing in HBB gene for Beta ThalassemiaCE-SeqBlood in EDTA2 weeks
ONCNGS045BRCause NGS Panel – Full sequencing of BRCA1 and BRCA2NGSBlood in EDTA4-5 weeks
ONCNGS046BRCause Extended NGS Panel – Full sequencing of BRCA1, BRCA2, ATM, BRIP1, NBN, RAD51C, RAD51D, PALB2, STK11, CHEK2, PTEN, TP53, CDH1, MLH1, MSH2, MSH6, PMS2, APC, SMAD4, BLM, FANCC, ERCC2 and EPCAM genesNGSBlood in EDTA4-5 weeks
ONCMLP203BRCopy: BRCA1, BRCA2 copy number variations and large gene rearrangements by MLPAMLPABlood in EDTA10 days
HAEQPC133Factor V Leiden (FVL R506Q/ G1691A) mutation analysisARMS real time PCRBlood in EDTA3 days
HAESEQ134Factor II / Prothrombin (FII G20210A) mutation analysisCE-SeqBlood in EDTA7 days
RPDFRG072Maternal Cell Contamination (MCC)Fragment AnalysisAntenatal sample and Parental sample in EDTA5 days
INDHC2440Human Papillomavirus (HPV) testing for Cervical Cancer Risk by HC2Hybrid Capture 2Cervical specimen in SurePath collection vialEvery Thursday
INDNGS441Human Papillomavirus (HPV) genotyping by NGS (RUO)NGSCervical specimen in SurePath collection vial4-5 weeks
NEUNGS360Pre-conception carrier screening for Thalassemia, Spinal Muscular Atrophy and Congenital Adrenal HyperplasiaNGS, MLPAEDTA Whole Blood (4-5 ml)14 working days
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