Postaxial acrofacial dysostosis (POADS; MIM 263750) also known as Miller syndrome is an autosomal recessive disorder with craniofacial and postaxial limb deformities. Craniofacial findings include cleft lip and/or palate, micrognathia, coloboma of the eyelids, and cup-shaped ears. Postaxial limb deformities consist of aplasia of fifth digits of the hand and feet with or without ulnar and fibular hypoplasia.read more
Tests Available
By gene: DHODH
|
Sanger Sequencing
$750
Test Code: 2192
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Deletion / Duplication
$680
Test Code: 2193
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Sanger/Del Dup Comprehensive
$1,330
Test Code: 2194
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Test Details
Technical Information
Genes:
DHODH
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Skeletal Dysplasias
Hearing Disorders
MIM:
263750
Billing
Price:
$750
CPT Codes:
81479 x 1
Ordering
SKU:
2192 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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
- Fibroblasts: 4 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 4 confluent T-25 flasks derived from amnio or CVS samples
- 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.