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Neurology

Genetic Test
Samples Required
EDTA

Coffin Siris Syndrome

SKU MBG-13854B
Category
Call to order - 01707 707 560.

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Description

Coffin-Siris syndrome (CSS) is a rare congenital multisystem genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or fingernail, developmental delay, cognitive disability, gross facies, and other variable clinical signs.

External Information

Click here for more information about the Coffin Siris Syndrome genetic test.

Additional information

Samples

EDTA
Method of testing

NGS
Turnaround Time (TAT) 30-40 days
Number of Genes

7
Genes / Chromosomes / SNPs

ARID1A, ARID1B, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1
External Information Click here for more information about the Coffin Siris Syndrome genetic test.

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