Neurofibromatosis, Type I

Show alternative names & symbols

Disorders Symbol MIM Links
  • Neurofibromatosis, Type I
    • Neurofibromatosis
    • Neurofibromatosis, Type I, With Glioma, Included
    • Neurofibromatosis, Type I, With Leukemia, Included
    • Neurofibromin, Included
    • Von Recklinghausen Disease
  • NF1
Genes Symbol MIM HGNC Links
  • neurofibromin 1
    • neurofibromatosis
    • neurofibromatosis, type i
    • neurofibromatosis, type i, with glioma, included
    • neurofibromatosis, type i, with leukemia, included
    • neurofibromin, included
    • von recklinghausen disease
  • NF1
Testing criteria
Specialties
  • Neurology, Adult
  • Neurology, Paediatric

5 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 Dundee RGC 56 £875
Sequencing of the entire coding region of gene (s) PLUS copy number analysis Postnatal Diagnosis Routine Cardiff RGC 40 £700
Sequencing of the entire coding region of gene (s) PLUS copy number analysis Postnatal Diagnosis Routine Salisbury RGC 56 £675
Sequencing of the entire coding region of gene (s) PLUS copy number analysis Postnatal Diagnosis Routine Birmingham RGC 40 £550
Sequencing of the entire coding region of gene (s) PLUS copy number analysis

Note: Sequencing of cDNA from short term PHA lymphocyte culture plus MLPA of gDNA

 Postnatal Diagnosis Routine Manchester RGC 56 £636
Targeted mutation analysis Prenatal Diagnosis Salisbury RGC 3 £180
Targeted mutation analysis Postnatal Diagnosis Routine Salisbury RGC 28 £180
Testing for known mutations in family members Prenatal Diagnosis Cardiff RGC 3 £160
Testing for known mutations in family members Postnatal Diagnosis Routine Cardiff RGC 20 £160
Testing for known mutations in family members Postnatal Diagnosis Urgent Cardiff RGC 3 £160
Testing for known mutations in family members Postnatal Diagnosis Routine Dundee RGC 28 £140
Testing for known mutations in family members Prenatal Diagnosis Dundee RGC 3 £180
Testing for known mutations in family members Prenatal Diagnosis Birmingham RGC 3 £183
Testing for known mutations in family members Postnatal Diagnosis Routine Birmingham RGC 20 £183
Testing for known mutations in family members Postnatal Diagnosis Urgent Birmingham RGC 10 £183
Testing for known mutations in family members Prenatal Diagnosis Manchester RGC 3 £276
Testing for known mutations in family members Postnatal Diagnosis Routine Manchester RGC 28 £138
Testing for known mutations in family members Postnatal Diagnosis Urgent Manchester RGC 14 £138
Targeted copy number analysis Postnatal Diagnosis Routine Cardiff RGC 20 £160
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