Reproductive and Women's Health
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 |
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