Test Directory

Home Test Search Results Alport Syndrome Genetic Panel
Alport Syndrome Genetic Panel

Justification

Genetics can help confirm a diagnosis of Alport syndrome and may be especially helpful when the clinical phenotype is not clear-cut. Genetics can also inform family planning (for example, does an affected male have X-linked or autosomal Alport and is an affected female heterozygous or homozygous?).

STAT: < 48 hours (M-F)

NGS

Draw Tube: Purple Top

Sample Type: EDTA Whole Blood

DRAW KITS AVAILABLE

Specimen Requirements

Sample Type Volume Required Minimum Volume Stability
PREFERRED EDTA Whole Blood 3mL 1mL Room Temp.: 1 month
Refrigerated: 1 month
ALTERNATIVE Cheek swab 2 swab - Room Temp.: 1 month
Refrigerated: 1 month
REJECTION CRITERIA Sample contamination; sample compromised
SPECIAL INSTRUCTIONS -

General Information

METHODOLOGY NGS
STAT TAT < 48 hours (M-F)
STAT TAT Performance > 90% of results released in 48 hours
ROUTINE TAT < 5 days (M-F)
ALTERNATIVE NAMES COL4A3, COL4A4, COL4A5
DESCRIPTION Alport Syndrome (AS) is a progressive inherited kidney disease. It is caused by mutations in genes COL4A3, COL4A4 and COL4A5, which are involved in the synthesis of type IV collagen. Sanger sequencing may be used to confirm variants as needed.
LIMITATIONS This test will not detect variants located outside of the targeted DNA regions. This test is not optimized to detect chimerism or somatic mosaicism. This test will detect small indels but may miss larger deletions or duplications. Balanced structural variants will not be detected unless specifically targeted by a custom PCR assay.
NORMAL RANGE Interpretation: Negative
ASSOCIATED TESTING -
REFERENCES

1. Alport, A. C., Hereditary familial congenital haemorrhagic nephritis. Brit. Med. J. 1: 504-506, 1927.
2. Kashtan, C. E., Alport Syndrome and Thin Basement Membrane nephropathy http://www.ncbi.nlm.nih.gov/books/NBK1207/.
SAMPLE REPORT Upon request
NEW YORK STATE APPROVED No

Test Codes

ORDER CODE P1200
CPT CODE 81407x2, 81408x2
LOINC CODE 53853-8