Branchiooculofacial syndrome (BOFS; MIM 113620) is an autosomal dominant developmental disorder characterized by cutaneous defects in the cervical or infra- and/or supra-auricular region, lacrimal duct obstruction, and ocular anomalies such as microphthalmia or anophthalmia, coloboma, ptosis and cataract. Craniofacial features include cleft or pseudocleft lip/palate, dolichocephaly, malformed pinnae, low set ears and broad nasal tip.read more
Tests Available
By gene: TFAP2A
Next Generation Sequencing
$900
Test Code: 2078
|
Deletion / Duplication
$900
Test Code: 2079
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2080
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Test Details
Technical Information
Genes:
TFAP2A
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Eye Disorders
Skin, Tooth, Nail and Hair Disorders
MIM:
113620
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2078 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:
- 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
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.