Neuropathy, Hereditary Sensory And Autonomic, Type III

Laboratories

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Targeted mutation analysis	Postnatal Diagnosis Routine	London South East RGC GSTT	28	£160
Targeted mutation analysis	Postnatal Diagnosis Urgent	London South East RGC GSTT	14	£160
Testing for known mutations in family members Note: Sample received as DNA, includes MCC	Prenatal Diagnosis	London South East RGC GSTT	3	£410
Testing for known mutations in family members Note: Sample received as CVS or AF, includes MCC	Prenatal Diagnosis	London South East RGC GSTT	3	£535

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Neuropathy, Hereditary Sensory and Autonomic, Type III Dysautonomia, Familial Hsan III Riley-Day Syndrome	HSAN3 DYS	223900	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
elongator complex protein 1 IKK complex-associated protein inhibitor of kappa light polypeptide gene enhancer in b cells, kinase complex-associated protein inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	ELP1 DYS IKAP IKBKAP	603722	5959

Testing Criteria & Gene Dossiers

Specialties

Specialties	Neurology, Adult Neurology, Paediatric

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