Acrodysostosis 1
Acrodysostosis 1, With or Without Hormone Resistance
Gene: PRKAR1A
Protein: protein kinase, cyclic adenosine monophosphate (cAMP)-dependent, regulatory type I, alpha
Clinical Characteristics
- Short stature
- Severe brachydactyly with short metatarsals, metacarpals and phalanges
- Cone-shaped epiphyses
- Nasal and maxillary hypoplasia
- Decreased vertebral interpedicular distance
- Advanced bone age
- Resistance to one or more hormones – can include parathyroid hormone, thyroid-stimulating hormone, growth hormone-releasing hormone, gonadotropins
- Normal development or mild developmental disability; unknown if developmental disability can be moderate or severe
- Clinical overlap with Albright's hereditary osteodystrophy (pseudohypoparathyroidism)
Inheritance pattern: Autosomal dominant
What Can Be Learned From This Test
Testing is performed by sequencing the entire coding region of the PRKAR1A gene. This will detect point mutations, small deletions and small insertions. It will not detect a partial or whole gene deletion or duplication.
Sample Requirements
Draw 2ml–4ml of blood in EDTA/purple-top tube (minimum of 1ml–2ml for infants).
Turnaround time: 10-14 business days
CPT Codes and Cost
Full Gene Sequencing
- Code: 81479
- Cost: $900
Known Variant Testing
- Code: 81479
- Cost: $225