Spastic Paraplegia 4, Autosomal Dominant

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Disorders	Symbol	MIM	Links
Spastic Paraplegia 4, Autosomal Dominant Familial Spastic Paraplegia, Autosomal Dominant, 2	SPG4 FSP2	182601	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
spastin chromosome 1 open reading frame 2 spastic paraplegia 4 (autosomal dominant; spastin) spastin spg4 gene	SPAST ADPSP C1ORF2 FSP2 SPAST SPG4	604277	11233

Specialties	Neurology, Adult Neurology, Paediatric

2 laboratories offer 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	Sheffield RGC	56	£626.50
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Urgent	Sheffield RGC	28	£939.75
Sequencing of the entire coding region of gene (s) PLUS copy number analysis Note: SPG4	Postnatal Diagnosis Routine	London South East RGC GSTT	56	£610
Sequencing of selected exons Note: including MCC	Prenatal Diagnosis	Sheffield RGC	3	£460
Sequencing of selected exons	Postnatal Diagnosis Routine	Sheffield RGC	14	£105
Sequencing of selected exons	Postnatal Diagnosis Urgent	Sheffield RGC	7	£157.50
Testing for known mutations in family members Note: including MCC	Prenatal Diagnosis	Sheffield RGC	3	£460
Testing for known mutations in family members	Postnatal Diagnosis Routine	Sheffield RGC	14	£105
Testing for known mutations in family members	Postnatal Diagnosis Urgent	Sheffield RGC	7	£157.50
Testing for known mutations in family members Note: in any one gene	Postnatal Diagnosis Routine	London South East RGC GSTT	28	£160
Targeted copy number analysis	Postnatal Diagnosis Routine	Sheffield RGC	28	£147.50
Targeted copy number analysis	Postnatal Diagnosis Urgent	Sheffield RGC	14	£221.25
Targeted copy number analysis Note: MLPA	Postnatal Diagnosis Routine	London South East RGC GSTT	28	£160

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