my CGC
< Back to results
 
Meckel syndrome 7 (sequence analysis of NPHP3 gene)
NPHP3
Request Now


Methodology

Sanger sequencing


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

- 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)