Fumarase Deficiency

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Fumarase Deficiency Fumaric Aciduria	FMRD	606812	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
fumarate hydratase fumarase fumarate hydratase, cytosolic, included fumarate hydratase, mitochondrial	FH FH1 FH2	136850	3700

Gene dossier	Fumarase Deficiency Sheffield RGC

Testing criteria	Fumarase Deficiency

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)	Postnatal Diagnosis Routine	Sheffield RGC	56	£310
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Urgent	Sheffield RGC	28	£460
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Sheffield RGC	56	£510
Testing for known mutations in family members	Prenatal Diagnosis	Sheffield RGC	3	£460
Testing for known mutations in family members Note: diagnostic sequencing	Postnatal Diagnosis Routine	Sheffield RGC	14	£155
Testing for known mutations in family members Note: predictive sequencing	Postnatal Diagnosis Routine	Sheffield RGC	14	£155
Targeted copy number analysis Note: diagnostic dosage	Postnatal Diagnosis Routine	Sheffield RGC	14	£200
Targeted copy number analysis Note: predictive dosage	Postnatal Diagnosis Routine	Sheffield RGC	14	£250

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