Whole blood in a purple top (EDTA) tube (preferred). Extracted DNA is accepted.
5 ml whole blood or 1 ug extracted DNA
3 ml whole blood
Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday within 24 hours of collection.
Whole blood can be refrigerated until shipment.
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Do not heat, freeze or centrifuge blood before shipment. Refrigerate sample until shipment.
Mon - Fri 9:00am to 4:00pm
Craniofrontonasal syndrome (CFNS) is an X-linked dominant disorder whose main clinical manifestations include coronal synostosis, hypertelorism, clefting of the nasal tip and various skeletal anomalies. Expression of CFNS is more severe in heterozygous females than in hemizygous males. Heterozygous females can display multiple cranial and extra-cranial features including, but not limited to: craniofacial asymmetry, craniosynostosis, bifid nasal tip, hypertelorism, and abnormalities of the thoracic skeleton and digits. Hemizygous males have no or only mild manifestations such as hypertelorism.
Loss-of-function mutations in EFNB1 located in Xq13.1 cause CFNS. Published mutations include frameshift, nonsense, missense, splice-site mutations, and partial/whole gene deletions. Mutations have been identified in all 5 exons, however more than half of mutations are located in exon 2. Somatic mosaicism has been described in 10-15% of families; thus, it may not always be possible to detect the pathogenic EFNB1 mutation in the first affected family member.
Large deletions in the EFNB1 gene will be detected using a multiplex ligation-dependent probe amplification assay (MLPA).
The analytical sensitivity of MLPA is ~99%.
Sequence Analysis of the EFNB1 gene.
Known mutation analysis of the EFNB1 gene is available to family members for mutations previously identified by sequence analysis or deletion/duplication analysis.
Test results with interpretation will be mailed and/or faxed to the referring physician following completion of the test. Additional reports will be provided as requested.
The clinical utility of the assay is to support a clinical diagnosis of the disease, facilitate genetic counseling, assess the risk to other first degree relatives and to facilitate testing of at - risk family members.
Whole blood in EDTA purple top tubes is the preferred sample. High molecular weight genomic DNA is also acceptable. Cheek epithelial cells or other samples containing DNA may be acceptable. Contact the laboratory for specific instructions regarding such samples before sending the sample.
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