Langer-Giedion Syndrome Deletion

Langer-Giedion syndrome is a contiguous gene deletion syndrome caused by a deletion encompassing the TRPS1 and EXT1 genes. Many patients with Langer-Giedion syndrome have cytogenetically visible deletions. Most deletions in Langer-Giedion syndrome will be detected by MLPA. Only about 30% of patients with the related Type 1 Trichorhinophalangeal syndrome will have a detectable deletion by MLPA testing; most of these patients have point mutations. This laboratory performs deletion/duplication by MLPA of this region.

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Ordering

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Test Code
C0049

Turn Around Time
2-3 weeks

Billing

CPT Code
81479×1

Ordering Guidance

Should not be ordered in conjunction with chromosomal microarray analysis as the CMA is able to detect this microdeletion/duplication syndrome.

If there are questions regarding this test, please contact Client Services at 617-553-5880 or clientservices@claritasgenomics.com

Details

Genes Covered
TRPS1, EXT1

Methods
MLPA