Thanatophoric Dysplasia, Type II

Laboratories

2 laboratories offer this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of selected exons Note: includes MCC	Prenatal Diagnosis	London North East RGC GOSH	3	£370
Sequencing of selected exons	Postnatal Diagnosis Routine	London North East RGC GOSH	28	£185
Sequencing of selected exons	Postnatal Diagnosis Urgent	London North East RGC GOSH	14	£185
Sequencing of selected exons Note: DNA / CVS or Amnio	Prenatal Diagnosis	London South East RGC GSTT	14	£410/£535
Sequencing of selected exons	Postnatal Diagnosis Urgent	London South East RGC GSTT	14	£160
Testing for known mutations in family members Note: includes MCC	Prenatal Diagnosis	London North East RGC GOSH	3	£370
Testing for known mutations in family members	Postnatal Diagnosis Routine	London North East RGC GOSH	14	£185
Testing for known mutations in family members Note: DNA / CVS or Amnio	Prenatal Diagnosis	London South East RGC GSTT	3	£410/£535

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Thanatophoric Dysplasia, Type II Cloverleaf Skull With Thanatophoric Dwarfism Thanatophoric Dysplasia With Kleeblattschaedel Thanatophoric Dysplasia With Straight Femurs And Cloverleaf Skull	TD2	187601	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
fibroblast growth factor receptor 3 achondroplasia, thanatophoric dwarfism	FGFR3 CD333	134934	3690

Testing Criteria & Gene Dossiers

Testing criteria	Thanatophoric Dysplasia

Specialties

Specialties	Clinical Genetics Histopathology Obstetrics

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