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Dopa-responsive dystonia, Autosomal recessive: TH gene sequence analysis
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 information
Analysis technique:
NGS
Chromosomal location:
11p15.5
Mode of inheritance:
Autosomal recessive
Description:
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