Search for a diagnostic test

Diagnosis of familial spastic paraplegia (NGS screening panel, 86 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 31/05/2018

Pränatal-Medizin München, Frauenärzte und Humangenetiker, Labor für molekulare Genetik
Pränatal-Medizin München MVZ GmbH
Aiblingerstr. 8
80639 MÜNCHEN
GERMANY
Director of laboratory : Dr Christoph BAGOWSKI
More information

Phone : 49 (0)89 1307 44 0
Additional Phone : -
Fax : 49 (0)89 1307 44 99
Website
Contact
email

Last update: May 2018

Responsible of diagnostic test

Dr Christoph BAGOWSKI

Purpose(s)

Antenatal diagnosis

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

Sanger sequencing

Sequence analysis: entire coding region

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (31)

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 17

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 20

Autosomal recessive spastic paraplegia type 21

Autosomal recessive spastic paraplegia type 35

Autosomal recessive spastic paraplegia type 39

Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 48

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 5A

Autosomal spastic paraplegia type 30

Fatty acid hydroxylase-associated neurodegeneration

Infantile-onset ascending hereditary spastic paralysis

MASA syndrome

Mutilating hereditary sensory neuropathy with spastic paraplegia

Severe intellectual disability and progressive spastic paraplegia

Spastic paraplegia type 2

Spastic paraplegia type 7

Spastic paraplegia-Paget disease of bone syndrome

List of genes tested (including panels) (82)

ANG

FUS

GAN

GBA

SPR

VCP

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.