Whole Exome and Mitochondrial Genome Sequencing, Varies
Use
This test serves as a first-tier test to identify molecular and/or mitochondrial diagnoses in patients with suspected genetic disorders, improving the understanding of prognosis and enabling targeted management. It is also used for predictive testing of at-risk family members and for excluding disease in siblings or other relatives. As a second-tier test, it is used for patients with negative results from previous genetic testing, offering a potentially cost-effective alternative to multiple independent molecular assays.
Special Instructions
Not provided.
Limitations
The test does not support detection of deep intronic variants or trinucleotide repeat variants except within the mitochondrial genome. It cannot be used for identifying somatic variants in solid tumors, nor does it provide genotyping for pharmacogenomic purposes. Due to technical limitations, some gene regions may not be effectively evaluated, and not all types of genomic variants may be detected. Negative results do not conclusively rule out a genetic disorder.
New York Approved
Methodology
NGS
Biomarkers
LOINC Codes
- 86205-2 - Whole exome seq analysis Bld/T
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 48767-8 - Annotation comment Imp
- 31208-2 - Specimen source
- 18771-6 - Provider signing name
Result Turnaround Time
84 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD); Acceptable: Green top (sodium heparin)
Collection Instructions
Invert several times to mix blood; send in original tube (do not aliquot). Whole blood postnatal from umbilical cord is also acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |