Robinow Syndrome, Autosomal Recessive

Laboratories

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Oxford RGC	56	£500
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Urgent	Oxford RGC	14	£500
Testing for known mutations in family members Note: Includes maternal cell exclusion	Prenatal Diagnosis	Oxford RGC	3	£450
Testing for known mutations in family members	Postnatal Diagnosis Routine	Oxford RGC	14	£145
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Oxford RGC	3	£145

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Robinow Syndrome, Autosomal Recessive Costovertebral Segmentation Defect With Mesomelia, Formerly Covesdem Syndrome, Formerly	RRS	268310	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
receptor tyrosine kinase-like orphan receptor 2 neurotrophic tyrosine kinase, receptor-related 2	ROR2 BDB BDB1 NTRKR2	602337	10257

Testing Criteria & Gene Dossiers

Specialties

Specialties	Clinical Genetics

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