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Diagnosis of hereditary spastic paraplegia (NGS screening panel, 55 genes)

Institut für Humangenetik
Universitätsklinikum Aachen
Pauwelsstr. 30
52074 AACHEN
GERMANY
Director of laboratory : Pr Ingo KURTH
More information

Phone : 49 (0)241 80 80178
Additional Phone : -
Fax : 49 (0)241 80 82580
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Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (47)

Allan-Herndon-Dudley syndrome

Autosomal dominant spastic paraplegia type 10

Autosomal dominant spastic paraplegia type 12

Autosomal dominant spastic paraplegia type 13

Autosomal dominant spastic paraplegia type 3

Autosomal dominant spastic paraplegia type 31

Autosomal dominant spastic paraplegia type 4

Autosomal dominant spastic paraplegia type 42

Autosomal dominant spastic paraplegia type 6

Autosomal dominant spastic paraplegia type 8

Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 15

Autosomal recessive spastic paraplegia type 18

Autosomal recessive spastic paraplegia type 21

Autosomal recessive spastic paraplegia type 26

Autosomal recessive spastic paraplegia type 28

Autosomal recessive spastic paraplegia type 35

Autosomal recessive spastic paraplegia type 39

Autosomal recessive spastic paraplegia type 43

Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 46

Autosomal recessive spastic paraplegia type 48

Autosomal recessive spastic paraplegia type 53

Autosomal recessive spastic paraplegia type 54

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 56

Autosomal recessive spastic paraplegia type 59

Autosomal recessive spastic paraplegia type 5A

Autosomal recessive spastic paraplegia type 60

Autosomal recessive spastic paraplegia type 61

Autosomal recessive spastic paraplegia type 62

Autosomal recessive spastic paraplegia type 63

Autosomal recessive spastic paraplegia type 64

Autosomal recessive spastic paraplegia type 66

Autosomal recessive spastic paraplegia type 67

Autosomal recessive spastic paraplegia type 69

Autosomal recessive spastic paraplegia type 71

Autosomal recessive spastic paraplegia type 76

Autosomal spastic paraplegia type 58

Autosomal spastic paraplegia type 72

Fatty acid hydroxylase-associated neurodegeneration

Inherited congenital spastic tetraplegia

MASA syndrome

Severe intellectual disability and progressive spastic paraplegia

Spastic paraplegia type 2

Spastic paraplegia type 7

List of genes tested (including panels) (52)

ZFR

Additional information

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