Test Menu - Reproductive Genetics

LIS-Code Test Name Test Methodology Specimen Type TAT (working days)
T1511 Karyotyping From Blood Karyotyping Heparin Blood 7 days
T1977 Karyotyping From Amniotic Fluid Karyotyping Amniotic Fluid 20 days
T2487 Chromosome 21 For Trisomy (Down Syndorme) FISH CVS*, AF*, Heparin Blood 5 days
T2505 Sex Chromosome-X/Y FISH Heparin Blood 5 days
T2536 Pre/ Postnatal FISH Panel- Chromosomes 13, 18, & 21 FISH CVS*, AF*, Heparin Blood 5 days
T3882 FISH for Pre/ Postnatal Chromosomes 13, 18, 21, X and Y FISH CVS*, AF*, Heparin Blood, Product Of Conception 5 days
T1981 Y-Chromosomal Microdeletion PCR Whole Blood EDTA 10 days
T3759 CytoScan Optima/POC Microarray/Cytoscan 315K/Microarray Rapidsure/Constitutional/ Di George by Microarray/ Prader Willi-Angelmann by Microarray Microarray Whole Blood EDTA, Product Of Conception 12 days
T3657 Prenatal Microarray*/ Cytoscan 315K* Microarray Amniotic Fluid*, CVS* 5 days
T3882 Cytoscan 750K/Microarray Rapidsure Deepdive Microarray Amniotic Fluid*, CVS*, Whole Blood EDTA 16 days
2115 MCC Check By QF-PCR QF -PCR Whole Blood EDTA (Maternal) 3 days
2112 Non Invasive Prenatal Testing- Focus NIPT Maternal Blood In Streck Tube, Plasma# 7-10 days
T3295 Non Invasive Prenatal Testing- Comprehensive NIPT Maternal Blood In Streck Tube, Plasma# 7-10 days
2120 Non Invasive Prenatal Testing- Plus NIPT Maternal Blood In Streck Tube, Plasma# 7-10 days
T1011 Prenatal Sanger Validation Sanger AF*, CVS* 15
T2566 Prenatal Beta Globin Gene Sequencing Sanger AF*, CVS*, Extracted DNA 10
P3899 Beta Thal TRIO NGS Whole Blood EDTA, CVS*, Amniotic Fluid* 12 days
T4617 ORION_TRIO  NGS Whole Blood EDTA, CVS*, Amniotic Fluid* 28 days
T4592 Prenatal ORION NGS Amniotic Fluid*, CVS* 21
P4112 Lumos Plus (Female) [Alpha Thalassemia (MLPA), Congenital Adrenal Hyperplasia (Seq + MLPA), Duchenne Muscular Dystrophy (MLPA),F8 Intron1/22 inversion,Fragile X Syndrome, Spinal Muscular Atrophy (MLPA) NGS + MLPA Whole Blood EDTA
Extracted DNA
28
P4113 Lumos Plus (Male) [Alpha Thalassemia(MLPA), Congenital Adrenal Hyperplasia (Seq+MLPA), Spinal Muscular Atrophy (MLPA)] NGS + MLPA Whole Blood EDTA
Extracted DNA
28
P4114 Lumos Comprehensive (Female)/[Spinal Muscular Atrophy ( MLPA), Duchenne Muscular Dystrophy (MLPA), Congenital Adrenal Hyperplasia (Seq+MLPA), Fragile X Syndrome] NGS + MLPA Whole Blood EDTA
Extracted DNA
28
P4115 Lumos Comprehensive (Male) [Spinal Muscular Atrophy ( MLPA), Congenital Adrenal Hyperplasia (Seq+MLPA)] NGS + MLPA Whole Blood EDTA
Extracted DNA
28
P4116 Lumos Focus (Female) [Spinal Muscular Atrophy (MLPA),Duchenne Muscular Dystrophy (MLPA)] NGS + MLPA Whole Blood EDTA
Extracted DNA
28
P4117 Lumos Focus (Male) [Spinal Muscular Atrophy (MLPA)] NGS + MLPA Whole Blood EDTA
Extracted DNA
28
T2826 PGS FOR 1 EMBRYO (Extended)/PGT-A NGS Trophoblast Cell 10 days
T2206 PGT-SR (Extended) NGS Trophoectodermal Cells, Endometrium Tissue 10 days
T3067 Endometrial Receptivity Assay (ERA) NGS Endometrium Tissue 28 days
T3011 Pre PGD Work-Up NGS EDTA BLOOD 20 days
T3025 PGD 1 Embryo/PGT-M NGS Trophoblast Cell 15 days
T2433 Sperm DNA Fragmentation Study Comet Assay Semen 7 days
G2211 TORCH PCR RT-PCR Whole Blood EDTA, Urine, AF* 2 days
T2008 Karyotyping From Product Of Conception (POC) By NGS NGS Product Of Conception Material 10 days
T2463 Urine Multiplex PCR for STDs RT-PCR Swab,Urine 1 days
T1269 Prenatal Aneuploidy Test By NGS (PAN) NGS Amniotic Fluid,Chorionic Villus Sample 7 DAYS
Specimen Type Container Volume Temperature
Whole Blood EDTA Purple / Lavender Top Vaccutainer 4 ml ( 2 vials)/ 6-8ml (for LUMOS) At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Heparin Blood Green Top Vaccutainer 3 ml ( 2 vials) At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Dried Blood Spot (DBS) FTA card 2-4 spot, minimum 14-18mm At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Product of Conception Sterile container with culture media / Sterile plastic container with normal saline + 0.25 ml Inj Gentamycin/Amikacin 50 mg of villous material apearing to be of fetal origin/ fetal end of umbilical cord 1-2 cm/ At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Fetal Tissue Fetal tissue in culture media/ Sterile Container with normal saline + 0.5 ml Inj Gentamycin/Amikacin. Fetal tissue ( skin/organ/small part) (Entire fetus is undesirable) At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Amniotic Fluid (AF)* Falcon Tubes (15 ml) 10 to 20 ml AF in two Falcon Tubes At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Chorionic Villus Sample/biopsy(CVS)* Falcon tubes (15 ml) 50 mg cleaned villi + 3ml Amniomax media At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Maternal Blood in Streck Tube White Color 10 ml At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Plasma # Sterile screw cap tube 2 to 5ml At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Semen Sterile container 2-4 ml At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Urine Sterile container
Extracted DNA 1.5 ml Eppendorf Tube 30 to 100 ul. (Min. quantity: 20ng/ul and quality : 260/280 ratio between 1.50 to 2.20) At room temperature upto 24 hrs, if exceeds then use cool packs (Room temperature should not exceed 30 degree celcius
Trophoectodermal cells -20°C Mini Cooler 2.5ul with Supratech Transport Buffer -20°C Mini Cooler
Trophoblast Cell -20°C Mini Cooler 2.5ul with supratech transport buffer -20°C Mini Cooler
Endometrium Tissue cryotube provided in kit 1/3rd of total volume in cryotube Keep at 4 degree celcius for 4 hours and then ship at room temp

Accreditations

CLIA No. 34D2205781