Test Directory
Test Code | ||||||||||||||||||||||||||||||
2359 | ||||||||||||||||||||||||||||||
Test Name | ||||||||||||||||||||||||||||||
Frontonasal Dysplasia, SIX2 Related | ||||||||||||||||||||||||||||||
CPT Codes | ||||||||||||||||||||||||||||||
81479 | ||||||||||||||||||||||||||||||
Expected Turnaround Time | ||||||||||||||||||||||||||||||
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited. | ||||||||||||||||||||||||||||||
Clinical Utility | ||||||||||||||||||||||||||||||
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members. | ||||||||||||||||||||||||||||||
Specimen and Container Info | ||||||||||||||||||||||||||||||
Non-Prenatal Specimens
Prenatal Specimens Either specimen type below is acceptable.
NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico. |
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Causes for Rejection | ||||||||||||||||||||||||||||||
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Methodology | ||||||||||||||||||||||||||||||
Next Generation Sequencing and Copy Number Variation Analysis | ||||||||||||||||||||||||||||||
Performing Location | ||||||||||||||||||||||||||||||
Genomics - Snowdrift | ||||||||||||||||||||||||||||||
Alternate Names | ||||||||||||||||||||||||||||||
SIX2 | ||||||||||||||||||||||||||||||
Description | ||||||||||||||||||||||||||||||
Frontonasal dysplasia (FND) is a heterogeneous group of disorders characterized by hypertelorism, broad nasal tip and root, bifid nose and oral, palatal and facial clefting. Additional findings include microphthalmia, coloboma, and low-set, posteriorly rotated ears. FND1 (MIM 136760), FND2 (MIM 613451) and FND3 (MIM 613456) are autosomal recessive disorders caused by mutations in the ALX3, ALX4 and ALX1 genes. Patients with FND2 can also have skull defects, coronal craniosynostosis, cryptorchidism, agenesis of corpus callosum, total alopecia and mental retardation. Mutations in ALX4 also cause parietal foramina 2 (PFM2; MIM 609597), an autosomal dominant disorder characterized by symmetrical, oval parietal bone defects, cranium bifidum and scalp defect. Parietal foramina also occurs as part of the Potocki-Shaffer syndrome (PSS; MIM 601224), a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region, encompassing the ALX4 gene. ALX1, ALX3 and ALX4 code for transcription regulators, homeobox protein aristaless-like 1, 3 and 4. Autosomal dominant FND is also recognized. This form is caused by mutations in the SIX2 gene (frontonasal dysplasia, SIX2 related). |
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Testing Schedule | ||||||||||||||||||||||||||||||
Monday-Friday | ||||||||||||||||||||||||||||||
Genes | ||||||||||||||||||||||||||||||
SIX2 | ||||||||||||||||||||||||||||||
Disease Group | ||||||||||||||||||||||||||||||
Craniosynostosis and Craniofacial Disorders |
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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