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X-linked recessive chondrodysplasia punctata
ARSE
X-linked recessive chondrodysplasia punctata (CDPX1) is characterized by abnormal cartilage and bone development. The minimal criteria to be met to warrant ARSE gene analysis include (1) male gender, (2) nasomaxillary hypoplasia with a reduced nasofrontal angle resulting in the appearance of a flattened nose, (3) brachytelephalangy and (4) chondrodysplasia punctata, involving at least the hands and feet, in patients younger than 3 years. CDPX1 demonstrates both decreased penetrance and variable expressivity, even within families. As there are other forms of chondrodysplasia punctata, testing for peroxisome diseases, chromosome abnormalities and disorders of cholesterol biosynthesis are also recommended.
Using genomic DNA obtained from buccal brush samples or blood in EDTA (5mL in lavender top tube), the eleven exons of the ARSE gene are sequenced bi-directionally to evaluate for a mutation in the gene. In females, targeted array CGH analysis with exon-level resolution (ExonArrayDx) is performed concurrently with sequencing to evaluate for a deletion or duplication of one or more exons of this gene. Note, this testing requires a BLOOD specimen. Carrier testing and prenatal diagnosis is available once the mutation in the family has been defined.
Testing for CDPX1 at GeneDx is partially supported by the CETT (Collaboration, Education and Test Translation) Program, an effort aimed at improving genotype-phenotype correlations. We kindly request that you submit the clinical data sheet along with the patient sample.
Information for non-genetics professionals
Information for parents
Clinical Data Sheet
Information Sheet, including prices and CPT codes
Consent Document
Genetic Test Sample Submission Form (Test Requisition Form) including Payment Options
ARSE
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