Orphanet: Diagnï¿½stico de la neuropatï¿½a perifï¿½rica genï¿½tica panel 107 genes

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Diagnosis of genetic peripheral neuropathy (panel - 107 genes)

Health In Code
Health In Code
Avenida Pasaje As Xubias s/n. Edificio El Fortín-Hospital Marítimo de Oza
15006 A CORUÑA
SPAIN
Director of laboratory : Dr Lorenzo MONSERRAT IGLESIAS
More information

Phone : 34 881 60 00 03
Additional Phone : -
Fax : 34 981167093
Website
Contact
email

Last update: December 2018

Responsible of diagnostic test

Dr Lorenzo MONSERRAT IGLESIAS

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics

Mutation scanning/screening and sequence analysis of selected exons

NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (106)

ATTRV30M amyloidosis

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

Autosomal dominant Charcot-Marie-Tooth disease type 2B

Autosomal dominant Charcot-Marie-Tooth disease type 2C

Autosomal dominant Charcot-Marie-Tooth disease type 2D

Autosomal dominant Charcot-Marie-Tooth disease type 2E

Autosomal dominant Charcot-Marie-Tooth disease type 2F

Autosomal dominant Charcot-Marie-Tooth disease type 2I

Autosomal dominant Charcot-Marie-Tooth disease type 2J

Autosomal dominant Charcot-Marie-Tooth disease type 2K

Autosomal dominant Charcot-Marie-Tooth disease type 2L

Autosomal dominant Charcot-Marie-Tooth disease type 2M

Autosomal dominant Charcot-Marie-Tooth disease type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2O

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

Autosomal dominant Charcot-Marie-Tooth disease type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2W

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant spastic paraplegia type 17

Autosomal recessive Charcot-Marie-Tooth disease type 2X

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive spastic paraplegia type 57

Channelopathy-associated congenital insensitivity to pain

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1B

Charcot-Marie-Tooth disease type 1C

Charcot-Marie-Tooth disease type 1D

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease type 1F

Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth disease type 2B5

Charcot-Marie-Tooth disease type 2H

Charcot-Marie-Tooth disease type 2P

Charcot-Marie-Tooth disease type 2R

Charcot-Marie-Tooth disease type 2S

Charcot-Marie-Tooth disease type 2T

Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B3

Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4F

Charcot-Marie-Tooth disease type 4G

Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooth disease type 4J

DNAJB2-related Charcot-Marie-Tooth disease type 2

Dejerine-Sottas syndrome

Distal hereditary motor neuropathy type 2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type 7

Distal hereditary motor neuropathy, Jerash type

Familial dysautonomia

Familial episodic pain syndrome with predominantly lower limb involvement

Familial episodic pain syndrome with predominantly upper body involvement

Giant axonal neuropathy

Hereditary motor and sensory neuropathy type 5

Hereditary motor and sensory neuropathy type 6

Hereditary motor and sensory neuropathy, Okinawa type

Hereditary neuropathy with liability to pressure palsies

Hereditary sensorimotor neuropathy with hyperelastic skin

Hereditary sensory and autonomic neuropathy type 1

Hereditary sensory and autonomic neuropathy type 2

Hereditary sensory and autonomic neuropathy type 4

Hereditary sensory and autonomic neuropathy type 5

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type 7

Hereditary sensory neuropathy-deafness-dementia syndrome

Infantile-onset X-linked spinal muscular atrophy

MME-related autosomal dominant Charcot Marie Tooth disease type 2

Mutilating hereditary sensory neuropathy with spastic paraplegia

Neuropathy with hearing impairment

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease

Primary erythromelalgia

Roussy-Lévy syndrome

SURF1-related Charcot-Marie-Tooth disease type 4

Severe early-onset axonal neuropathy due to MFN2 deficiency

Sodium channelopathy-related small fiber neuropathy

Spinal muscular atrophy with respiratory distress type 1

Spinocerebellar ataxia with axonal neuropathy type 2

X-linked Charcot-Marie-Tooth disease type 1

X-linked Charcot-Marie-Tooth disease type 4

X-linked Charcot-Marie-Tooth disease type 5

X-linked Charcot-Marie-Tooth disease type 6

X-linked hereditary sensory and autonomic neuropathy with deafness

Young adult-onset distal hereditary motor neuropathy

List of genes tested (including panels) (107)

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