Charcot-Marie-Tooth Disease, Axonal, Type 2E

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Charcot-Marie-Tooth Disease, Axonal, Type 2E Charcot-Marie-Tooth Neuropathy, Type 2E HMSN IA	CMT2E CMT2E	607684	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
neurofilament, light polypeptide neurofilament light chain neurofilament protein, light chain neurofilament, light polypeptide 68kda	NEFL CMT1F CMT2E NF-L NF68 NFL	162280	7739

Gene dossier	Charcot-Marie-Tooth Disease, Axonal, Type 2E Bristol RGC

Testing criteria	Charcot-Marie-Tooth Disease, Axonal, Type 2E

Specialties	Clinical Genetics Neurology, Adult

2 laboratories offer this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	Bristol RGC	56	£411
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Urgent	Bristol RGC	14	£411
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	Aberdeen RGC	56	£350
Testing for known mutations in family members	Postnatal Diagnosis Routine	Bristol RGC	28	£200
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Bristol RGC	14	£200
Testing for known mutations in family members	Postnatal Diagnosis Routine	Aberdeen RGC	14	£140

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