Three M syndrome 1 (3M1; MIM 273750) , 2 (3M2; MIM 612921) and 3 (3M3; MIM 614205) are autosomal recessive disorders characterized by pre- and postnatal growth retardation, large head circumference, and a characteristic facial appearance including a pointed triangular shaped face, frontal bossing, midface hypoplasia, a short upturned nose with anteverted nares and full lips.read more
Tests Available
By gene: CCDC8
Sanger Sequencing
$595
Test Code: 1347
|
Deletion / Duplication
$900
Test Code: 1348
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1673
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Test Details
Technical Information
Genes:
CCDC8
Disease Groups:
Skeletal Dysplasias
MIM:
614205
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1347 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: 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.