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Orthopedics

Genetic Test
Samples Required
EDTA

Rubinstein-Taybi Syndrome

SKU MBG-A1459
Category
Call to order - 01707 707 560.

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Description

Rubinstein-Taybi syndrome is a rare malformative syndrome characterized by congenital anomalies (microcephaly, characteristic facies, thumbs and large toes and postnatal growth retardation), short stature, cognitive disability and behavioral disorders.

External Information

Click here for more information about the Rubinstein-Taybi Syndrome genetic test.

Additional information

Samples

EDTA
Method of testing

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

2
Genes / Chromosomes / SNPs

CREBBP, EP300
External Information Click here for more information about the Rubinstein-Taybi Syndrome genetic test.

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