Test Menu - Inherited Genetic Disorders
| LIS - Code | Test Name | Test Methodology | Specimen Type | TAT (working days) |
|---|---|---|---|---|
| T4594 | ORION (Whole Exome Sequencing (WES) with CNV calling) | NGS | Blood EDTA, Extracted DNA, Dried Blood Spot | 28 |
| T4595 | ORION Focus (Mendeliome Based Disease Associated Panel) | NGS | Blood EDTA, Extracted DNA, Dried Blood Spot | 28 |
| T4617 | ORION TRIO (Whole Exome Sequencing-Trio) | NGS | Blood EDTA, Extracted DNA, Dried Blood Spot, AF*, CVS* | 28 |
Please note:
In case of high temperature, send the samples accompanied with cool packs.
Extracted DNA is NOT PREFERRED for prenatal sample testing.
Product of conception (POC) – Entire fetus is undesirable. In exceptional cases please send fetal end of umbilical cord 1-2 cm. The rest of the fetus has to be sent in a wide topped screw tight container in 10% formalin.