Preimplantation genetic testing (PGT) facilitates in identifying euploid embryos for uterine implantation and thereby impoved the outcome of in vitro fertilzation and treatment of infertility.
Synopsis
This test screens the mutations/variants in the cancers affecting multiple organ systems such as breast, ovarian, uterine colorectal, gastric, pancreatic, thyroid, paraganglioma/ pheochromocytoma, hyperparathyroidism, renal/urinary tract, prostate, melanoma, basal cell nevus syndrome, brain/nervous system tumors, sarcoma and myelodysplastic syndrome/leukemia.
Why to Screen
1. Diagnosis of cancer in early age.
2. A family history of certain type of cancers.
3. Diagnosis of cancer at younger ages in family members.
2. A family history of certain type of cancers.
3. Diagnosis of cancer at younger ages in family members.
Sample Type
Saliva (2 mL) / Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva, Mouthwash (oral rinse), Muscle, skin, or liver tissue, Cultured fibroblasts, Cord blood collected at birth, but not prior to birth)
Genes
ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1
No of Genes Screened
83
Limitations
This test screens the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes that results in hereditary breast, ovarian, uterine, colorectal, gastric, prostate, melanoma, and pancreatic cancers.
Synopsis
Aneuploid is a clinical condition arises from improper cell division resulting in abnormal number of chromosomes. Aneuploid embryos leads to spontaneous miscarriages, genetic disorders especially, live birth defects. Aneuploidy occurs across all woman of all age groups, especially after 35 years of age the rate of aneuploid embryos is high. Screening and selection of Euploid embryos, which have a complete set of chromosomes is feasible by Preimplantation genetic diagnosis (PGD) have better chances for successful implantation in uterus and having a healthy baby.
Why to Screen
Women of all age groups with implantation failures, miscarriages, pregnancies with chromosomal abnormalities and patients with male factor infertility
Sample Type
Embryo Transfer as per the Standard operating procedure
Platform/ Technology
NGS
Variant Class
Whole-chromosome aneuploidy, Polyploidy (including 69,XXX), Haploid/molar pregnancies, Segmental aneuploidy, Uniparental isodisomy (UPiD)*
Limitations
*UPiD can be detected on all chromosomes except 17, 19, 20, 21, and 22
Preimplantation genetic testing (PGT) facilitates in identifying euploid embryos for uterine implantation and thereby impoved the outcome of in vitro fertilzation and treatment of infertility.
Synopsis
This test screens the mutations/variants in the cancers affecting multiple organ systems such as breast, ovarian, uterine colorectal, gastric, pancreatic, thyroid, paraganglioma/ pheochromocytoma, hyperparathyroidism, renal/urinary tract, prostate, melanoma, basal cell nevus syndrome, brain/nervous system tumors, sarcoma and myelodysplastic syndrome/leukemia.
Why to Screen
1. Diagnosis of cancer in early age.
2. A family history of certain type of cancers.
3. Diagnosis of cancer at younger ages in family members.
2. A family history of certain type of cancers.
3. Diagnosis of cancer at younger ages in family members.
Sample Type
Saliva (2 mL) / Blood Sample (3 mL in EDTA Container) / DNA (Extracted from Frozen blood, Buccal swab/scrape, Saliva, Mouthwash (oral rinse), Muscle, skin, or liver tissue, Cultured fibroblasts, Cord blood collected at birth, but not prior to birth)
Genes
ALK, APC, ATM, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CHEK2, CTNNA1, DICER1, DIS3L2, EGFR, EPCAM, FH, FLCN, GATA2, GPC3, GREM1, HOXB13, HRAS, KIT, MAX, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PDGFRA, PHOX2B, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WRN, WT1
No of Genes Screened
83
Limitations
This test screens the coding regions (Exons) and Exon/Inton boundaries upto +/- 10 base pairs in the selected genes that results in hereditary breast, ovarian, uterine, colorectal, gastric, prostate, melanoma, and pancreatic cancers.
Synopsis
Preimplantation genetic diagnosis (PGD) is used to identify known disease causing mutations and structural rearrangements or translocations in chromosomes before embryo transplantation to uterine for In vitro fertilization.
Why to Screen
To identify the known or unknown single gene disorders
Sample Type
Embryo Transfer as per the Standard operating procedure
Platform/ Technology
NGS
Variant Class
Point Mutations, InDels, Structural rearrangements
Limitations
Screening for disease causing variants is limited to targeted region in the genome
