Genopath
| SR NO | TEST | TEST COMPONENTS | METHOD | SPECIMEN/TRANSPORT | TAT | CLINICAL APPLICATIONS |
|---|---|---|---|---|---|---|
| 1 | Non-Invasive Prenatal Testing (NIPT) | T21, T13, T18 (+ Other chromosomes) | Next-Generation Sequencing | Maternal whole blood 10 ml in Streck tube | 10 days | Non Invasive Screening test for chromosomal aneuploidy of fetus in pregnant woman. This test should not be considered diagnostic. |
| 2 | Non-Invasive Prenatal Testing (NIPT) T21 | Trisomy 21 | Next-Generation Sequencing | Maternal whole blood 10 ml in Streck tube | 10 days | Non Invasive screenng test for Down syndrome (Trisomy 21) in fetus from 10 weeks and above gestation period. |
| 3 | Non-Invasive Prenatal Testing (NIPT) + Microdeletions | Next-Generation Sequencing | Maternal whole blood 10 ml in Streck tube | 10 days | Non Invasive screening test for the common trisomy 13, trisomy 18, trisomy 21 (Down syndrome), Turner syndrome, sex chromosome aneuploidies (XXX, XXY, XYY), and microdeletions causing 22q11.2 deletion (DiGeorge or velocardiofacial [VCFS] syndrome), 1p36 deletion, Angelman, Prader-Willi, and cri-du-chat (5p-) syndromes. Testing may be offered to pregnant women from 10 weeks of gestation. Test is also recommended for women who are carrying more than one fetus or have a known twin demise, patients who have used an egg donor, surrogates who have not used their own egg. | |
| 4 | Pre-implantation Genetic Screening (STAT) | All Chromosomal aneuploidies (46 chromosomes) | Next-Generation Sequencing | Contact laboratory | 48 hrs | Test helps in selection of normal embryo for implantation in uterus to achieve pregnancy in case of advance maternal age, or having multiple pregnancy loss history. |
| 5 | Pre-implantation Genetic Screening (Extended) | All Chromosomal aneuploidies (46 chromosomes) | Next-Generation Sequencing | Contact laboratory | 12 days | Test helps in selection of normal embryo for implantation in uterus to acheive pregnancy in case of advance maternal age, or having multiple pregnancy loss history. |
| 6 | Molecular Karyotyping for POC | All Chromosomal aneuploidies (46 chromosomes) | Next-Generation Sequencing | Product of conception (POC) | 15 days | Test helps in identification of possible reason for pregnancy loss. |
| 7 | MOLECULAR KARYOTYPING FOR AMNIOTIC FLUID | All Chromosomal aneuploidies (46 chromosomes) | Luminex solid phase assay | Amniotic fluid (10 to 12 ml) / Chorionic villi sample (CVS) | 10 days | Fetal DNA to identify specific gene mutations and diagnose a variety of inherited diseases. Each test is ordered separately based upon the parents' personal and family histories. If a specific gene mutation is known to be present in the mother's or father's family, then that specific gene mutation can be tested for. While there are hundreds of genetic tests that can be performed, only a few are associated with relatively common disorders. Typically, only the most common mutations are tested; therefore, a fetus could still have an inherited disorder even though genetic testing did not identify one. |
| 8 | Y-Chromosome Microdeletion | PCR | Whole blood 3ml in EDTA vacutainer | 5 days | Yq microdeletions involving some or all of the azoospermic factor (AZF) region are the most frequently identified cause of spermatogenic failure in chromosomally normal men with nonobstructive azoospermia (3%-15%) or
severe oligospermia (6%-10%). Among unselected infertile males, the overall frequency of Yq microdeletions is approximately 3%. The relative frequency of Yq microdeletions makes the evaluation for them an important
aspect of the diagnostic work up in infertile males, especially those with azoospermia or severe oligospermia. Most cases of Yq microdeletions occur de novo, and due to the consequential infertile phenotype, they
are typically not transmitted. However, in cases where assisted reproductive technology (example: testicular sperm extraction followed by intracytoplasmic sperm injection) is used to achieve viable pregnancy, all
male offspring born to a microdeletion carrier will carry the deletion and may be infertile. Men testing positive for 1 or more microdeletions who are enrolled in an in vitro fertilization treatment program may
wish to consider alternative options to intracytoplasmic sperm injection (eg, donor sperm) and consultation with an experienced reproductive endocrinologist and medical geneticist is recommended. Most Y microdeletions
are the result of homologous recombination between repeated sequence blocks. Testing for deletions involves investigating for the presence or absence of markers located within nonpolymorphic regions of the AZF region. |
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| 9 | Microarray Rapidsure, Prenatal | All chromosmes. Gain or loss of any chromosme. triploidy of any chromosome. | Microarray | EDTA Blood/Amniotic Fluid/CVS | 5 days | This enables the detection of aneuploidies, submicroscopic aberrations, and mosaic events. Also, due to the ability to provide genotype information, it can help in the identification of maternal contamination, triploidies, and copy neutral events such as absence of heterozygosity and UPD. |
| 10 | Microarray Rapidsure, Constitutional | All chromosmes. Gain or loss of any chromosme. triploidy of any chromosome. | Microarray | EDTA Blood/Amniotic Fluid/CVS | 12 days | This enables the detection of aneuploidies, submicroscopic aberrations, and mosaic events. Also, due to the ability to provide genotype information, it can help in the identification of triploidies, and copy neutral events such as absence of heterozygosity and UPD. |
| 11 | Microarray Rapidsure Deepdive | All chromosmes. Gain or loss of any chromosme. triploidy of any chromosome. | Microarray | EDTA Blood/Amniotic Fluid/CVS | 16 days | This enables the detection of aneuploidies, submicroscopic aberrations, and mosaic events. Also, due to the ability to provide genotype information, it can help in the identification of maternal contamination, triploidies, and copy neutral events such as absence of heterozygosity and UPD. |
| 12 | Clinical exome sequencing. | A panel of genes. | NGS | Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration. Specimen at room temperature. Also acceptable: Refrigerated. Ship in cooled container during summer months. | 20 | Clinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for establishing a definitive molecular diagnosis of individuals with rare genetic disorders which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management changes, specific therapies) -Predictive testing of at-risk family members -Testing and exclusion of disease in siblings or other relatives -Recurrence risk assessment -Reproductive decision-making Serving as a second-tier test for patients in whom previous genetic testing for specific syndromes was negative Providing a potentially cost-effective alternative to establishing a molecular diagnosis compared to multiple independent molecular assays |
| 13 | Primary Ciliary Dyskinesia Panel | coding region and intron-exon boundaries of genes DNAH5, DNAH11, CCDC39, DNAI1, CCDC40, CCDC103, SPAG1, ZMYND10, ARMC4, CCDC151, DNAI2, RSPH1, CCDC114, RSPH4A, DNAAF1, DNAAF2, LRRC6 ,C21orf59, CCDC65, DNAAF3, DNAAF4, DNAAF5, DNAH8, DRC1, HYDIN, NME8, OFD1, RPGR, RSPH9, ZMYND10 associated with primary ciliary dyskinesia | Next-Generation Sequencing | Preferred sample EDTA Blood (3ml x 3) Amniotic Fluid/ CVS will be accepted based on clinical criteria on special consideration | 20 days | This test is used to screen for mutations in the genes responsible for PCDP. This test helps in determining the necessity for screening in other family members. In cases of a positive finding in a patient of child bearing age, Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation. |
| 14 | Prenatal - Beta thalassemia gene sequencing | All exons of HBB | Sanger Sequencing | AF, CVS, mother+father blood in EDTA | 7 days | Detection of pathogenic mutations in a DNA sample can lead to a diagnosis, possible prognosis, and prospective therapy treatments. And fetal diagnosis. |
| 15 | PrePGD Workup | Pre Workup for PGD | PCR and Sanger Sequencing | EDTA whole blood (3ml) | 15 days | This test is used to screen for mutations in the genes responsible for genetic disorders. This test helps in determining the necessity for screening in a patient of child bearing age. Preimplantation genetic diagnosis can be performed in most cases to help conceive a child without the pathogenic mutation. |
| 16 | Pre-implantation Genetic Diagnosis | Targeted identified mutation detection in Trophoblast cell | PCR and Sanger Sequencing | Trophoblast cell | 20-25 days | Preimplantation genetic diagnosis (PGD) is a procedure that allows embryos to be tested for genetic disorders before they enter the uterus and before pregnancy has begun. Embryos obtained by in vitro fertilization undergo a biopsy procedure in which one or two cells are removed and tested for a specific disorder. If the cell is unaffected, the embryo from which it was taken is judged to be free of the disorder. |
| 17 | Karyotyping- Peripheral Blood- Individual | All Chromosomes | Culture Karyotyping | Sodium Heparin Blood (3ml) | 7 days | To diagnose congenital chromosomal abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements |
| 18 | Karyotyping- Peripheral Blood- Couple | All Chromosomes | Culture Karyotyping | Sodium Heparin Blood (3ml) | 7 days | To diagnose congenital chromosomal abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements |
| 19 | Karyotyping- Amniotic Fluid | All Chromosomes | Culture Karyotyping | Amniotic fluid (10 to 12ml) | 15 days | Can detect any chromosomal abnormality including aneuploidy, translocation, inversions, deletions and duplication. |
| 20 | Sperm DNA Fragmentation Study | 7 days | Provides a reliable analysis, beyond the routine semen sample assessment, of sperm DNA integrity that may help to identify men who are at risk of failing to initiate a healthy pregnancy Information helps in the clinical diagnosis, management and treatment of male infertility Prognostic value in assessing outcome of assisted conception treatment | |||
| SR NO | TEST | TEST COMPONENTS | METHOD | SPECIMEN/TRANSPORT | TAT | CLINICAL APPLICATIONS |