Dopa-responsive dystonia, Autosomal recessive: TH gene sequence analysis

Diagnosis group: 
A1 - Rare genetic diseases
Code: 
G-1063-01
Alternative titles: 
Segawa syndrome, Autosomal recessive / Parkinsonism, Infantile, autosomal recessive / Tyrosine hydroxylase deficiency
OMIM phenotype code: 
605407
OMIM code gene / locus: 
191290
Analyzed genes: 
TH
Terms
Turn around time (working days): 
45
Specimen type: 
Peripheral blood (EDTA tube)
Volume (ml): 
3.00
Preservation (ºC): 
4
Specific informationAnalysis technique: 
NGS
Chromosomal location: 
11p15.5
Mode of inheritance: 
Autosomal recessive
Description: 

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