Thrombophilia Due to Protein C Deficiency, Autosomal Dominant/Recessive

Laboratories

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	Sheffield RGC	56	£250
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Urgent	Sheffield RGC	28	£375
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	Edinburgh RGC	56	£597
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Edinburgh RGC	56	£637
Sequencing of selected exons Note: includes MCC	Prenatal Diagnosis	Sheffield RGC	3	£460
Sequencing of selected exons Note: per amplicon	Postnatal Diagnosis Routine	Sheffield RGC	14	£105
Sequencing of selected exons Note: per exon	Prenatal Diagnosis	Edinburgh RGC	5	£343
Sequencing of selected exons	Postnatal Diagnosis Routine	Edinburgh RGC	28	£343
Testing for known mutations in family members Note: per amplicon	Postnatal Diagnosis Routine	Sheffield RGC	14	£105
Testing for known mutations in family members	Prenatal Diagnosis	Edinburgh RGC	5	£343
Testing for known mutations in family members	Postnatal Diagnosis Routine	Edinburgh RGC	28	£343
Targeted copy number analysis Note: includes MCC	Prenatal Diagnosis	Sheffield RGC	3	£460
Targeted copy number analysis	Postnatal Diagnosis Routine	Sheffield RGC	56	£250
Targeted copy number analysis	Postnatal Diagnosis Urgent	Sheffield RGC	28	£375
Targeted copy number analysis	Postnatal Diagnosis Routine	Edinburgh RGC	28	£427

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant PROC Deficiency, Autosomal Dominant Protein C Deficiency, Autosomal Dominant	THPH3 0	176860	Genetic Test Registry
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive PROC Deficiency, Autosomal Recessive Protein C Deficiency, Autosomal Recessive	THPH4 0	612304	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
protein C, inactivator of coagulation factors Va and VIIIa protein C protein C (inactivator of coagulation factors Va and VIIIa)	PROC	612283	9451

Testing Criteria & Gene Dossiers

Specialties

Specialties	Haematology, Adult Haematology, Paediatric

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