1. Genetic tests
  2. Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)

Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)

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Full name:
Congenital generalized lipodystrophy type 2 / Spastic paraplegia-17 / Hereditary motor neuronopathy type VA / Silver spastic paraplegia syndrome (hot spot mutation - p.Asn88Ser; p.Ser90; p.Arg96His)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565390-565401
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
07 Aug 2019 - 12:10
Changed:
04 Nov 2022 - 10:44