Osteopathia striata with cranial sclerosis (OSCS; MIM 300373) is an X-linked dominant sclerosing bone dysplasia caused by inactivating mutations in the APC membrane recruitment protein 1 gene (AMER1, also known as FAM123B or WTX). OSCS is lethal in most affected males. The clinical findings in females include a dysmorphic , characteristic facies including macrocephaly, frontal bossing, broad nasal bridge, hypertelorism, abnormalities of the palate inread more
Tests Available
By gene: AMER1
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Next Generation Sequencing
$900
Test Code: 1814
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Deletion / Duplication
$900
Test Code: 1815
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1816
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Related Panels
Test Details
Technical Information
Genes:
AMER1
Disease Groups:
Osteopetrosis and High Bone Density Disorders
MIM:
300373
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
1814 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.