Thrombophilia Due to Protein C Deficiency, Autosomal Dominant/Recessive

Laboratories

2 laboratories offer this test:

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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
  • Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
    • PROC Deficiency, Autosomal Recessive
    • Protein C Deficiency, Autosomal Recessive
  • THPH4
    • 0
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

Testing Criteria & Gene Dossiers

Specialties

Specialties
  • Haematology, Adult
  • Haematology, Paediatric
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