Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies

Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, (SSFSC; MIM 617877) is an autosomal dominant condition caused by mutations in the BMP2 gene. Characteristic craniofacial features include midface hypoplasia, a short nose with anteverted nares, long philtrum, and palatal anomalies. Additional craniofacial features may include temporal narrowing, broad forehead, low-set, posteriorly rotated ears, thin upper lip, and dental crowding. Phalangeal abnormalities are characteristic for SSFSC. Other skeletal findings may include 11 pairs of ribs, prominent sternum or pectus excuvatum, and spondylolisthesis. Cardiac findings, such as transposition of the great arteries, pulmonary valve stenosis, Ebstein anomaly, ventricular septal defect, and cardiac arrhythmias are also relatively common.

 
 

Genes(s)

BMP2

Disease Group(s)

Skeletal disorders Cardiovascular disorders Craniosynostosis and Craniofacial Disorders

Billing

81479 x 1

Ordering

Test Code
2459
Additional Test Codes
2457 —Next Generation Sequencing Only, 2458 — Deletion / Duplication Only
Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)
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
Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze. For more details and to download the required forms, please visit our shipping page.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.