Ceroid Lipofuscinosis, Neuronal, 1

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal 1, Infantile Ceroid Lipofuscinosis, Neuronal, 1, Variable Age At Onset Infantile Neuronal Ceroid Lipofuscinosis Neuronal Ceroid Lipofuscinosis, Infantile Finnish Type Santavuori Disease Santavuori-Haltia Disease	CLN1 INCL NCL	256730	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
palmitoyl-protein thioesterase 1 ceroid-lipofuscinosis, neuronal 1, infantile palmitoyl-protein thioesterase palmitoyl-protein thioesterase 1	PPT1 CLN1 INCL PPT	600722	9325

Specialties	Clinical Genetics Metabolic Medicine, Adult Metabolic Medicine, Paediatric Neurology, Adult Neurology, Paediatric

1 laboratory offers this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	London North East RGC GOSH	56	£460
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Urgent	London North East RGC GOSH	28	£460
Targeted mutation analysis Note: Common Mutations	Postnatal Diagnosis Routine	London North East RGC GOSH	14	£185
Targeted mutation analysis Note: Common Mutations	Postnatal Diagnosis Urgent	London North East RGC GOSH	14	£185
Testing for known mutations in family members Note: Includes MCC exclusion	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	Postnatal Diagnosis Urgent	London North East RGC GOSH	14	£185

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