Orphanet: Diagnostic des maladies lysosomales Panel

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Diagnosis of lysosomal diseases (Panel)

Laboratoire de biochimie médicale
Institut de Biologie Clinique
CHU de Rouen
1 Rue de Germont
76031 ROUEN CEDEX
FRANCE
Director of laboratory : Pr Soumeya BEKRI
More information

Phone : 33 (0)2 32 88 81 24
Additional Phone : -
Fax : 33 (0)2 32 88 83 41

Last update: February 2018

Responsible of diagnostic test

Pr Soumeya BEKRI

Purpose(s)

Antenatal diagnosis

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Sequence analysis: entire coding region

NGS sequencing (except WES)

Deletion / Duplication analysis

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (89)

Adult Krabbe disease

Alpha-N-acetylgalactosaminidase deficiency type 1

Alpha-N-acetylgalactosaminidase deficiency type 2

Alpha-N-acetylgalactosaminidase deficiency type 3

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form

Aspartylglucosaminuria

Atypical Gaucher disease due to saposin C deficiency

Beta-mannosidosis

Cholesteryl ester storage disease

Congenital sialidosis type 2

Encephalopathy due to prosaposin deficiency

Fetal Gaucher disease

Free sialic acid storage disease, infantile form

GM1 gangliosidosis type 1

GM1 gangliosidosis type 2

GM1 gangliosidosis type 3

GM2 gangliosidosis, AB variant

Galactosialidosis

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Glycogen storage disease due to LAMP-2 deficiency

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

Hurler syndrome

Hurler-Scheie syndrome

Hyaluronidase deficiency

Infantile Krabbe disease

Infantile osteopetrosis with neuroaxonal dysplasia

Intermediate severe Salla disease

Juvenile nephropathic cystinosis

Juvenile sialidosis type 2

Late-infantile/juvenile Krabbe disease

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, late infantile form

Mucolipidosis type II

Mucolipidosis type III alpha/beta

Mucolipidosis type IV

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 4A

Mucopolysaccharidosis type 4B

Mucopolysaccharidosis type 6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Mucopolysaccharidosis type 7

Multiple sulfatase deficiency

Nephropathic infantile cystinosis

Niemann-Pick disease type A

Niemann-Pick disease type B

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Ocular cystinosis

Progressive epilepsy-intellectual disability syndrome, Finnish type

Pycnodysostosis

Sandhoff disease, adult form

Sandhoff disease, infantile form

Sandhoff disease, juvenile form

Sanfilippo syndrome type A

Sanfilippo syndrome type B

Sanfilippo syndrome type C

Scheie syndrome

Sialidosis type 1

Tay-Sachs disease, B variant, adult form

Tay-Sachs disease, B variant, infantile form

Tay-Sachs disease, B variant, juvenile form

Tay-Sachs disease, B1 variant

List of genes tested (including panels) (51)

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