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Meckel syndrome 5 (sequence analysis of RPGRIP1L gene)
RPGRIP1L
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Specimen Requirements


Descriptive Volume /
Concentration 1
Container Transport
temperature
Sample
viability (days) 2
DNA ≥ 100 µL [50 ng/µL] Eppendorf Safe-lock Room temp. n/a
Peripheral blood ≥ 3 mL EDTA Room temp. 5
1 When it is not possible to collect the minimum volume for the test, please contact CGC Genetics
2 Maximum shipping time to ensure sample quality

Turnaround Time (Days)

- 60

CPT Codes

- 81479

Specialties

- Rare diseases, Gastroenterology, Nephrology, Neurology / Neuropediatrics, Obstetrics / Gynecology /PND, Pediatrics, Dysmorphology


CGC Reference

- 1608




Associated Tests


Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel for 66 genes, including CNV analysis)
Joubert syndrome (WES based NGS panel for 35 genes, including CNV analysis)
Meckel syndrome (NGS panel of 13 genes)
Nephronophthisis (NGS panel of 19 genes)