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Sidst opdateret: 16/11 2017
Cornelia de Lange Syndrome
Contact: RH-Kennedy-medgenlab
Analysis

Method

Indicative turnaround time

Material
and
delivery

Mutation screening – gene panels

Next Generation
Sequencing (NGS)

Cornelia de Lange Syndrome (CdLS) gene panel*:
The five known  genes associated with CdLS

CdLS differential diagnosis panel*:
Three genes associated with syndromes with clinical features overlapping with CdLS

The genes are listed below.

 

3 - 4 months

6 ml EDTA blood (small children 1-3 ml)

or extracted genomic DNA


Sent by courier or ordinary mail to Medical Genetics Laboratory, Kennedy Center, Gl. Landevej 7, DK-2600 Glostrup, Denmark

Mutation screening – single gene
(NIPBL)

MLPA

1 - 2 months

- do -

Carrier analysis / analysis for specified mutation

Sanger sequencing

1 - 2 months

- do -

Prenatal diagnosis

Only after contact to the laboratory

Contact: mailto:RH-Kennedy-medgenlab@regionh.dk

CdLS gene panel

Disorder

OMIM no.

Gene and OMIM no.

Inheritance

Cornelia de Lange Syndrome 1(CdLS1)

OMIM 122470

NIPBL (OMIM 608667)

Dominant

Cornelia de Lange Syndrome 2 (CdLS2)

OMIM 300590

SMC1A (OMIM 300040)

X-linked dominant

Cornelia de Lange Syndrome 3 (CdLS3)

OMIM 610759

SMC3 (OMIM 606062)

Dominant

Cornelia de Lange Syndrome 4 (CdLS4)

OMIM 614701

RAD21 (OMIM 606462)

Dominant

Cornelia de Lange Syndrome 5 (CdLS5)

OMIM 300882

HDAC8 (OMIM 300269)

X-linked dominant

CdLS differential diagnosis panel

Disorder

OMIM no.

Gene and OMIM no.

Inheritance

Roberts Syndrome

OMIM 268300

ESCO2 (OMIM 609353)

Recessive

Kleefstra syndrome

OMIM 610253

EHMT1 (OMIM 607001)

Dominant

Alpha-thalassemia/mental retardation syndrome

OMIM 301040

ATRX (OMIM 300032)

X-linked

 

Alpha-thalassemia myelodysplasia syndrome, somatic

OMIM 300448

ATRX (OMIM 300032)

X-linked

Mental retardation-hypotonic facies syndrome, X-linked

OMIM 309580

ATRX (OMIM 300032)

X-linked