Alport Syndrome Gene Panel
Use
This test is useful for providing a genetic evaluation for patients with a personal or family history suggestive of Alport syndrome and for establishing a diagnosis of Alport syndrome. The test utilizes next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in four genes associated with Alport syndrome: COL4A3, COL4A4, COL4A5, and COL4A6. Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for Alport syndrome.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all types of genomic variants, and the depth of coverage may be variable for some target regions; assay performance below acceptable criteria or failed regions will be noted. False-positive or false-negative results can occur, and specific clinical disorders may require evaluation by alternative methods if not all targeted genes can be effectively evaluated. Regions of genes with high GC content or repetitive sequences may be challenging to assess, and deletions-insertions may be missed. This test is validated to detect 95% of deletions up to 75 base pairs and insertions up to 47 base pairs but may be less accurate for larger events.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51966-0 - Gene dis DNA anl Pnl
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
14-28 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)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |