Cartilage-hair hypoplasia

RMRP - cartilage-hair hypoplasia

This test is available for the following conditions:

• Conditions > Oncogenetics > Cartilage-hair hypoplasia
• Conditions > Skeletal > Cartilage-hair hypoplasia

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Inherited bone marrow failure and/or predisposition panel to hematological malignancies
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Primary immunodeficiencies panel
• Severe combined immunodeficiency (SCID) panel
• Short stature/skeletal dysplasia panel with genome wide CNV analysis
• 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

Remarks
The RMRP gene is a noncoding gene and is not well-covered in WES data.

OMIM: 250250
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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