RMRP related disorders - The RMRP gene encodes an RNA component of an enzyme involved in the processing of mitochondrial RNA. Mutations in RMRP have been identified in three different disorders: Cartilage-hair hypoplasia or metaphyseal chondrodysplasia, McKusick type (CHH; MIM 250250), metaphyseal dysplasia without hypotrichosis (CHHV; MIM 250460) and anauxetic dysplasia (MIM 607095). All are autosomal recessive disorders.
read moreTests Available
By gene: RMRP
Sanger Sequencing
$350
Test Code: 1078
|
Deletion / Duplication
$900
Test Code: 1895
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1896
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Test Details
Technical Information
Genes:
RMRP
Disease Groups:
Skeletal Dysplasias
Skin, Tooth, Nail and Hair Disorders
MIM:
250250
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1078 Turnaround Time:
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.