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 Name||Analytical Technique||Sample required||TAT|
|RPDMLP304||MLPA for Aneuploidies (all chromosomes) in Products of Conception (POC)||MLPA||Products of Conception in Saline||10 days|
|RPDSEQ391||Y-Chromosome Microdeletions||AFLP/ Fragment Analysis||Blood in EDTA||5 days|
|HAESEQ031||Full HBB gene sequencing for beta Thalassemia||NGS||Blood in EDTA||4-5 weeks|
|HAESEQ034||Full HBB gene sequencing for beta Thalassemia + HPLC||NGS + HPLC||Blood in EDTA||3-4 weeks|
|HAESEQ031||Targeted (known) mutation detection in HBB gene with Maternal Cell Contamination (MCC) for Prenatal samples||CE-Seq/ ARMS PCR + Fragment analysis||Antenatal sample (CVS, Amniotic Fluid)||10 days|
|HAEPCR396||Detection of IVS1-5 G>C mutation in HBB gene||ARMS real time PCR||Blood in EDTA, Antenatal sample||2-3 days|
|HAESEQ397||Targeted (known) sequencing in HBB gene for Beta Thalassemia||CE-Seq||Blood in EDTA||2 weeks|
|ONCNGS045||BRCause NGS Panel – Full sequencing of BRCA1 and BRCA2||NGS||Blood in EDTA||4-5 weeks|
|ONCNGS046||BRCause 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 genes||NGS||Blood in EDTA||4-5 weeks|
|ONCMLP203||BRCopy: BRCA1, BRCA2 copy number variations and large gene rearrangements by MLPA||MLPA||Blood in EDTA||10 days|
|HAEQPC133||Factor V Leiden (FVL R506Q/ G1691A) mutation analysis||ARMS real time PCR||Blood in EDTA||3 days|
|HAESEQ134||Factor II / Prothrombin (FII G20210A) mutation analysis||CE-Seq||Blood in EDTA||7 days|
|RPDFRG072||Maternal Cell Contamination (MCC)||Fragment Analysis||Antenatal sample and Parental sample in EDTA||5 days|
|INDHC2440||Human Papillomavirus (HPV) testing for Cervical Cancer Risk by HC2||Hybrid Capture 2||Cervical specimen in SurePath collection vial||Every Thursday|
|INDNGS441||Human Papillomavirus (HPV) genotyping by NGS (RUO)||NGS||Cervical specimen in SurePath collection vial||4-5 weeks|
|NEUNGS360||Pre-conception carrier screening for Thalassemia, Spinal Muscular Atrophy and Congenital Adrenal Hyperplasia||NGS, MLPA||EDTA Whole Blood (4-5 ml)||14 working days|