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Test Code CDLSeqUM Cornelia de Lange Syndrome Sequencing Panel

Clinical System Name

Cornelia de Lange Syndrome Panel

Synonyms

CdLS

Description

Mutations in five genes, HDAC8, NIPBL (5p13.1), RAD21, SMC1A, and SMC3 are currently reported to cause Cornelia de Lange syndrome (CdLS).  Mutations in the NIPBL gene more often cause the classical form of CdLS, while mutations in the HDAC8, RAD21, SMC1A, and SMC3 genes often cause a more mild form of CdLS. Classical CdLS is characterized by distinctive facial features (including microbrachycephaly, arched eyebrows, long, thick eyelashes, low-set posteriorly rotated and/or hirsute ears with thickened helices, depressed or broad nasal bridge, long smooth philtrum, high arched or cleft palate, small widely-spaced teeth, micrognathia, and a short neck), growth retardation, hirsutism, and upper limb reduction deficits. Additional features include intellectual disability, cardiac defects, gastrointestinal dysfunction, hearing loss, myopia, and hypoplastic genitalia. Individuals with a milder phenotype have less severe growth, cognitive, and limb involvement but usually have the classical facial features associated with CdLS.

This test analyzes: HDAC8, NIPBL, RAD21, SMC1A, SMC3

Sample Requirements

Specimen: Whole blood

Container(s): Lavender/EDTA

Preferred Vol: 2- 5 mL

Minimum Vol: 2.0 mL (infants 2.0 mL)

 

Specimen: Isolated DNA

Container(s): microtainer

Preferred Vol: at least 5 ug in at least 100 uL (at least 50 ng/µL) 

 

Specimen: Oral rinse- follow manufacturer's instructions   

 

Specimen: Buccal Swab- follow manufacturer's instructions

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location:  Do not spin. Deliver blood to Sendouts refrigerator rack.

 

Off-site collection: Do not spin.

Stability

Specimen Type Temperature Time
  Room temp

 

  Refrigerated  
  Frozen

 

Ideal handling is to ship immediately at ambient temperature for overnight delivery with arrival Monday-Saturday. Specimens can be refrigerated for 7 days before shipping. In hot weather a cool pack can be enclosed.

Availability

STAT Performed TAT
N  Drawn daily 4 w

 

Performing Laboratory

GeneDx

Department

Department:  

GeneDx
207 Perry Parkway
Gaithersburg MD 20877
 

 

Phone Number

301-519-2100

 

 

 

Reference Range

Interpretive report provided.
 

 

Methodology

Method: Next Generation Sequence Analysis and Exon Array CGH

Analytical Volume: None specified

Limitations:

Special Instructions

Links to:

 

Specimen Requirements

Send Out Instructions

 

Reference Test Name: Cornelia de Lange Syndrome: Sequencing Panel
Reference Test Number:

MM460

Instructions:

Ship ambient via FedEx. Sat delivery ok for genetic testing.