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:

• WES comprehensive preconception carrier test ¹
• WES hereditary cancer (% *)
• WES inherited bone marrow failure and/or predisposition to hematological malignancies (% *)
• WES intellectual disability (% *)
• WES Mendelian inherited disorders (% *)
• WES primary immunodeficiencies (% *)
• WES severe combined immunodeficiency (SCID) (% *)
• WES short stature/skeletal dysplasia (% *)
• WES skin disorders¹ (% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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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