Variant Names:
Beals syndrome & Arthrogryposis, distal, type 9 (DA9)
Congenital contractural arachnodactyly (CCA; MIM 121050) is an autosomal dominantly inherited connective tissue disorder characterized by contractures of peripheral joints, arachnodactyly, scoliosis, "crumpled” ears and a high arched palate. CCA patients have also been reported with various cardiovascular and ocular findings.read more
Tests Available
By gene: FBN2
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Next Generation Sequencing
$900
Test Code: 1081
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Deletion / Duplication
$900
Test Code: 1082
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1508
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Test Details
Technical Information
Genes:
FBN2
Disease Groups:
Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysms & dissections, and related disorders
Skeletal Dysplasias
MIM:
121050
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1081 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.