Invitae ARSE-Related Chondrodysplasia Punctata Test
Use
The Invitae ARSE-Related Chondrodysplasia Punctata Test is used to analyze the ARSE gene. This gene is associated with X-linked chondrodysplasia punctata 1 (CDPX1), a disorder affecting bone and cartilage development. Genetic testing can confirm a diagnosis of CDPX1 and assist in guiding treatment decisions and genetic counseling. Carrier females typically show no symptoms, but some may exhibit short stature.
Special Instructions
You can customize this test by adding genes. For example, the NSDHL gene can be added to the panel at no additional charge due to overlapping clinical features with chondrodysplasia punctata.
Limitations
This assay may not detect structural rearrangements like inversions or translocations, or variants in complex sequence architectures like short tandem repeats. Sequence changes in promoter and non-coding regions are typically not covered unless explicitly specified. In rare cases, analyzed DNA might not represent the patient’s constitutional genome in instances of neoplasm, bone marrow transplant, or recent blood transfusion.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)