CFTR - congenital bi/unilateral agenesis vas deferens

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: 8 weeks / Targeted analysis: 4 weeks

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)

Remarks
MLPA, only after consultation

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

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