Catel-Manzke syndrome (CATMANS; MIM 616145) is an autosomal recessive disorder. Pierre Robin sequence and bilateral clinodactyly are the most common findings. Other features may include congenital heart defect, upslanting palpebral fissures, short nose with anteverted nares, thin eyebrows, low-set ears and short neck.read more
Tests Available
By gene: TGDS
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Next Generation Sequencing
$900
Test Code: 2012
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Deletion / Duplication
$900
Test Code: 2013
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2014
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Test Details
Technical Information
Genes:
TGDS
Disease Groups:
Cardiovascular Disorders
Craniosynostosis and Craniofacial Disorders
MIM:
616145
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2012 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.