The acrofacial dysostoses are characterized by malformations of the craniofacial skeleton and limbs. The major craniofacial findings in acrofacial dysostosis 1, Nager type (AFD1; MIM 154400) include downslanting palpebral fissures, lower lid coloboma, microcephaly and micrognathia with midface retrusion, cleft lip or palate, posteriorly rotated low set ears with conductive deafness and more

Tests Available

By gene: SF3B4
Sanger Sequencing
Test Code: 1988
Deletion / Duplication
Test Code: 1989
NGS/Del Dup Comprehensive
Test Code: 1990

Test Details

Technical Information
Disease Groups: 
Limb Hypoplasia - Reduction Defects
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
Hearing Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 1 to 2 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)

Ship all specimen types at room temperature by overnight courier. Do not freeze.

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