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Chondrodysplasia Punctata (CDPX1)
X-linked recessive chondrodysplasia punctata (CDPX1) is characterized by abnormal cartilage and bone development, including nasomaxillary hypoplasia, absence of the anterior nasal spine, hypoplasia of distal phalanges (brachytelephalangy), stippled epiphyses on X-ray (chondrodysplasia punctata) especially in the hands and feet, hearing loss and short stature. CDPX1 has variable expression. Less severely affected individuals have normal intellect, minimal morbidity and may achieve normal stature in adulthood. More severe cases may involve marked nasal hypoplasia requiring choanal stents, punctate calcifications involving the tracheobronchial tree and leading to airway complications, as well as abnormal ossification of the cervical vertebrae resulting in cervical spine stenosis and instability, requiring close follow-up, surgical interventions and early lethality in some cases. Cardiac defects, mental retardation and seizure disorders have also been described.
Identification of the specific molecular basis of congential ichthyosis or related skin disorders
Genetic counseling and recurrence risk assessment
Option for prenatal testing in future pregnancies
As needed, based on the referring diagnosis and coverage achieved by the XomeDxSlice-Ichthyosis for a given patient, critical exons with a high yield of mutations will be filled-in by dideoxy sequencing. For any autosomal recessive gene, if one definitive mutation is found by XomeDxSlice sequencing, AND the gene fits the type of ichthyosis reported by the referring physician, capillary sequencing will be used to fill in sequence for exons that are not sufficiently covered (>10X) to find the second mutation. If no second mutation is found by sequencing, deletion/duplication analysis of that gene can be performed at no additional cost can be performed at no additional cost.
Patient samples sent for XomeDxSlice will not be evaluated for secondary findings and therefore will not receive secondary findings as part of their result.\\\\\\\"
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