Cornelia de Lange Syndrome
| Disorder | Cornelia de Lange syndrome | |
| Gene Names |
Analysis of individual genes: NIPBL, SMC1A, RAD21, SMC3, or HDAC8 Analysis of two genes: NIPBL & SMC1A NGS 5-Gene panel: NIPBL, SMC1A, RAD21, SMC3, or HDAC8 |
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| Clinical info | Cornelia de Lange syndrome is characterized by growth retardation of prenatal onset, microcephaly, small hands and feet, limb abnormalities, and reflux. Dysmorphic features include synophrys, upturned nose, downturned mouth, and low-set ears. Long eyelashes are common as are hirsuitism and a coarsened appearance . Cleft palate, kidney abnormalities, and heart defects are present in some patients. Intellectual disability is common, and many individuals with Cornelia de Lange also experience hearing loss. Other issues may include self-injurious behaviors, obsessive-compulsive disorder, and autistic tendencies. Cornelia de Lange syndrome often results from de novo autosomal dominant mutations in NIPBL, RAD21, or SMC3, while SMC1A and HDAC8 demonstrate X-linked inheritance with both males and females exhibiting symptoms. Cornelia de Lange shows variable expressivity although individuals with NIPBL mutations tend to show more severe phenotypes. | |
| Indications | Molecular testing is useful to confirm the diagnosis and to identify the disease causing mutation within a family to allow for carrier testing and prenatal diagnosis. | |
| Detection | Sequencing of the NIPBL gene will detect a mutation in up to 60% of individuals with a clinical diagnosis of Cornelia de Lange sndrome, while X-linked mutations account for approximately 5% of cases. | |
| Specimen Requirements | 5 to 10 ml of peripheral blood collected in an EDTA (lavender top) Vacutainer tube is preferred. The minimal blood needed for reliable DNA isolation is 3 ml. | |
| Transport | The specimen should be kept at room temperature and delivered via overnight shipping. FedEx is preferred. If shipment is delayed by one or two days, the specimen should be refrigerated and shipped at room temperature. Do not freeze the specimen. Samples collected on Friday can be safely designated for Monday delivery. | |
| Turnaround time |
Analysis of individual genes (NIPBL, SMC1A, RAD21, SMC3, or HDAC8): 6 weeks Analysis of two genes (NIPBL & SMC1A): 6 weeks NGS 5-Gene panel (NIPBL, SMC1A, RAD21, SMC3, or HDAC8): 8-10 weeks |
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| Prenatal testing | Prenatal diagnosis is available if the familial mutation is known. Additional fees for cell culture and maternal cell contamination may apply. Maternal cell contamination studies are required for all prenatal molecular tests. Contact the laboratory prior to sending a prenatal specimen. | |
| CPT Codes |
Unknown mutation: 81479 |
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| Cost |
Individual gene analysis: $1800 $700 for deletion/duplication analysis of either NIPBL or SMC1A or $1200 for deletion/duplication analysis of both NIPBL and SMC1A Prenatal diagnosis for a known mutation is $1000. Please contact the lab for more information. |
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| Contact | For further information contact one of our This email address is being protected from spambots. You need JavaScript enabled to view it. at 1-800-473-9411. | |
Form Needed
Download molecular-lab-request-form.pdf
Have Questions Need Support?
Call our laboratory at 1-800-473-9411 or contact one of our Laboratory Genetic Counselors for assistance
Robin Fletcher, MS, CGC
Kellie Walden, MS, CGC
Molecular Diagnostic Lab
The Molecular Diagnostic Lab offers DNA analysis for many genetic disorders via gene sequencing, targeted mutation analysis, MLPA deletion/duplication testing, trinucleotide repeat analysis and next generation sequencing panels.