Mandibulofacial dysostosis, Guion-Almeida type (MFDGA;  MIM 610536) is an autosomal dominant disorder characterized by progressive microcephaly, craniofacial anomalies, congenital heart defects, choanal atresia, developmental delay, conductive hearing loss and speech delay. Craniofacial findings include midface and malar hypoplasia, micrognathia, cleft palate, microtia, and dysplastic ears. Esophageal atresia has been reported in some more

Tests Available

By gene: EFTUD2
Next Generation Sequencing
Test Code: 2159
Deletion / Duplication
Test Code: 2160
NGS/Del Dup Comprehensive
Test Code: 2161

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Hearing Disorders
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 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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