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Meckel syndrome 7 (sequence analysis of NPHP3 gene)
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Sanger sequencing

Specimen Requirements

Descriptive Volume /
Concentration 1
Container Transport
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


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

CGC Reference

- 1609

Associated Tests

Nephronophthisis 3 (sequence analysis of NPHP3 gene)
Meckel syndrome 7 (deletion/duplication analysis on NPHP3 gene)
Congenital anomalies of the kidney and urinary tract (CAKUT) (WES based NGS panel of 66 genes, including CNV analysis)
Congenital liver fibrosis (NGS panel of 53 genes)
Meckel syndrome (NGS panel of 13 genes)