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Endocrinology

Genetic Test
Samples Required
EDTA

Aromatic L-Amino Acid Decarboxylase deficiency

SKU MBG-5890
Categories , ,
Call to order - 01707 707 560.

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Description

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia and signs of autonomic dysfunction.

External Information

Click here for more information about the Aromatic L-Amino Acid Decarboxylase deficiency genetic test.

Additional information

Samples

EDTA
Method of testing

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

1
Genes / Chromosomes / SNPs

DDC
Related diseases

|Aromatic L-amino acid decarboxylase deficiency
External Information Click here for more information about the Aromatic L-Amino Acid Decarboxylase deficiency genetic test.

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