Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a pan-ethnic disorder characterized by pre- and postnatal growth retardation and various congenital anomalies, including a facial gestalt, limb anomalies, gastrointestinal disorders, hirsutism, and intellectual disability. Mild to severe forms of CdLS have been observed. Approximately 37 to 47% of patients with CdLS have a mutation in the NIPBL […]
Cornelia de Lange syndrome (CdLS) is a pan-ethnic disorder characterized by pre- and postnatal growth retardation and various congenital anomalies, including a facial gestalt, limb anomalies, gastrointestinal disorders, hirsutism, and intellectual disability. Mild to severe forms of CdLS have been observed.
Approximately 37 to 47% of patients with CdLS have a mutation in the NIPBL gene identifiable by sequencing. Large deletions encompassing one or more exons of NIPBL have been identified in 5% of patients without mutations detectable by sequencing. The clinical course of patients with large deletions in the NIPBL gene, including growth and motor delay, is severe. NIPBL mutations are inherited in an autosomal dominant fashion.
SMC1A mutations have been observed in 5% of patients with CdLS and are composed mostly of missense and in-frame small deletions, and rarely of large in-frame deletions. Mutations in the SMC1A gene lead to mild to moderate phenotypes, including non-specific X-linked mental retardation. SMC1A mutations are X-linked; however, since SMC1A escapes inactivation, males and females with a mutation in SMC1A are affected.
Additionally, in 4-14% of patients with a clinical diagnosis of CdLS, a genomic deletion or duplication not including NIPBL or SMC1A was identified by karyotype or array CGH.
- Prenatal Limb Abnormalities Panel
- Cornelia de Lange Syndrome Panel
- NIPBL Select Exons Sequencing
- NIPBL Remaining Exons Sequencing
- SMC1A Gene Sequencing
- NIPBL Del/Dup
- SMC1A Del/Dup
Prenatal Limb Abnormalities Panel
FORMS AND DOCUMENTS
- NIPBL, SALL1, SALL4, TBX5, TP63 (TP73L)
- Clinical Utility:
- Prenatal diagnosis in a fetus based on ultrasound findings suggestive of a limb abnormality syndrome
- Prenatal diagnosis for known familial mutation(s) in at-risk pregnancies
- Distinguish between causes and forms of limb abnormality syndromes
- Genetic counseling, especially regarding recurrence risk
- Lab Method:
- Exon Array CGH|Next-gen Sequencing
- Test Code:
- Turnaround Time:
- 3 weeks
- Preferred Specimen:
- 20 mg CVS
- Alternative Specimen:
- 20 mL Amniotic Fluid, 2 T25 flasks of cultured amniocytes, 2 T25 flasks of cultured chorionic villi, Ug DNA Concentration
- CPT Codes:
- 81405x1, 81479x4, 81265x1
- New York Approved:
- ABN Required:
- Billing Information:
- View Prenatal Billing Policy
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