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 patients.read more

Tests Available

By gene: EFTUD2
Next Generation Sequencing
$990
Test Code: 2159
Deletion / Duplication
$680
Test Code: 2160
NGS/Del Dup Comprehensive
$1,570
Test Code: 2161

Test Details

Technical Information
Genes: 
EFTUD2
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Hearing Disorders
MIM: 
610536
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
2159
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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