CFTR - congenital gi/unilateral agenesis vas deferens (analysis of common mutations)

This test is available for the following conditions:

• Conditions > Fertility and pregnancy > Congenital uni/bilateral agenesis vas deferens (CBAVD/CUAVD)

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Liver disorders panel
• Male infertility panel
• Mendelian inherited disorders panel
• Metabolic disorders panel
• Primary immunodeficiencies panel
• Skin disorders panel¹

Turnaround time
Complete analysis & Targeted analysis: 4 weeks

Method

• Targeted analysis of one or more variants

Remarks
With this test 53 most frequent European and Dutch mutations/variants in the CFTR gene will be tested.

OMIM: 602421
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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