Ellis-Van Creveld Syndrome

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Ellis-Van Creveld Syndrome Chondroectodermal Dysplasia Mesoectodermal Dysplasia	EVC	225500	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
EvC ciliary complex subunit 1 Ellis van Creveld	EVC DWF-1	604831	3497
EvC ciliary complex subunit 2 Ellis van Creveld 2	EVC2 LBN	607261	19747

Gene dossier	Ellis-Van Creveld Syndrome Bristol RGC

Testing criteria	Ellis-Van Creveld Syndrome

Specialties	Clinical Genetics

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Testing for known mutations in family members Note: EVC or EVC2	Postnatal Diagnosis Urgent	Bristol RGC	14	£200
Testing for known mutations in family members Note: EVC or EVC2	Postnatal Diagnosis Routine	Bristol RGC	28	£200
Testing for known mutations in family members Note: EVC or EVC2	Prenatal Diagnosis	Bristol RGC	3	£300
Sequencing of the entire coding region of gene (s) Note: EVC & EVC2	Postnatal Diagnosis Urgent	Bristol RGC	28	£904
Sequencing of the entire coding region of gene (s) Note: EVC & EVC2	Postnatal Diagnosis Routine	Bristol RGC	58	£904

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