List of diseases covered by Cornelia de Lange Syndrome NGS panel

List of diseases covered by
Cornelia de Lange Syndrome NGS panel

Gene Condition
AFF4 CHOPS syndrome
ANKRD11 KBG syndrome
HDAC8 Cornelia de Lange syndrome 5
KMT2A Wiedemann-Steiner syndrome
NIPBL Cornelia de Lange syndrome 1
RAD21 Cornelia de Lange syndrome 4
SMC3 Cornelia de Lange syndrome 3
SMC1A Cornelia de Lange syndrome 2
TAF6 Alazami-Yuan syndrome

Cornelia de Lange Syndrome NGS panel

Cornelia de Lange Syndrome
NGS panel

Genes
(full
coding region):
AFF4, ANKRD11, HDAC8, KMT2A, NIPBL, RAD21, SMC3, SMC1A, TAF6

List of diseases covered by the panel


Price / TAT: 1030 EUR / 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the NIPBL gene

Genes: NIPBL

Lab method: MLPA

Price / TAT: 590 EUR / 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

1. Confirmation of clinical diagnosis
2. Carrier testing of at-risk female relatives
3. Prenatal diagnosis for known familial mutation
4. Genetic counseling

Cornelia de Lange syndrome (CdLS) is characterized by distinctive facial features, growth retardation, developmental delay, hirsutism, and limb abnormalities. Craniofacial features include synophrys, arched eyebrows, long eyelashes, small upturned nose and thin downturned lips, small widely spaced teeth, and microcephaly.

Additional findings may include cardiac defects, gastrointestinal dysfunction, hearing loss, myopia, seizures, cleft palate, and cryptorchidism or hypoplastic genitalia.

The prevalence of disorder is estimated at 1:50,000 for the classic form of CdLS. CdLS can be inherited in an autosomal dominant or X-linked manner.

References:

Barisic I et al. EUROCAT Working Group. Descriptive epidemiology of Cornelia de Lange syndrome in Europe. Am J Med Genet A.2008;146A:51–9.
Deardorff MA et al. Cornelia de Lange Syndrome. GeneReviews® 2005 Sept 16 (Updated 2011 Oct 27).
Kline AD et al. Natural history of aging in Cornelia de Lange syndrome. Am J Med Genet C Semin Med Genet. 2007;145C:248–60.