Ehlers-Danlos Syndrome, Type VI

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Ehlers-Danlos Syndrome, Type VI Eds VI Ehlers-Danlos Syndrome, Kyphoscoliotic Type Ehlers-Danlos Syndrome, Ocular-Scoliotic Type Ehlers-Danlos Syndrome, Type VIa, Formerly	EDS6 EDS6A, FORMERLY	225400	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 lysine hydroxylase lysyl hydroxylase lysyl hydroxylase 1 procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1	PLOD1 LH LH1 LLH	153454	9081

Gene dossier	Ehlers-Danlos Syndrome, Type VI Sheffield RGC

Testing criteria	Ehlers-Danlos Syndrome, Type VI

Specialties	Clinical Genetics

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Sheffield RGC	56	£746 (HSS)
Testing for known mutations in family members Note: inc MCC	Prenatal Diagnosis	Sheffield RGC	3	£450 (HSS)
Testing for known mutations in family members	Postnatal Diagnosis Routine	Sheffield RGC	14	£155 (HSS)

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