Phenylketonuria

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Phenylketonuria Folling Disease Hyperphenylalaninemia, Mild, Included Oligophrenia Phenylpyruvica Pah Deficiency Phenylalanine Hydroxylase Deficiency Phenylalanine Hydroxylase, Included Phenylalaninemia, Included Pku Pku1, Included	PKU HPA PAH	261600	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
phenylalanine hydroxylase folling disease hyperphenylalaninemia, mild, included oligophrenia phenylpyruvica pah deficiency phenylalanine hydroxylase deficiency phenylalanine hydroxylase, included phenylalaninemia, included phenylketonuria pku pku1, included	PAH PH	261600	8582

Specialties	Metabolic Medicine, Adult Metabolic Medicine, Paediatric

2 laboratories offer this test:

Service level	Referral category	Laboratory	Calendar Days	NHS Price
Sequencing of the entire coding region of gene (s)	Postnatal Diagnosis Routine	Bristol RGC	56	£638
Sequencing of the entire coding region of gene (s) PLUS copy number analysis	Postnatal Diagnosis Routine	Belfast RGC	60	£337
Testing for known mutations in family members	Postnatal Diagnosis Routine	Belfast RGC	20	£135
Testing for known mutations in family members Note: 1 mutation	Prenatal Diagnosis	Bristol RGC	3	£305
Testing for known mutations in family members Note: 1 mutation	Postnatal Diagnosis Routine	Bristol RGC	10	£203
Testing for known mutations in family members Note: 2 mutations	Prenatal Diagnosis	Bristol RGC	3	£342
Testing for known mutations in family members Note: 2 mutations	Postnatal Diagnosis Routine	Bristol RGC	28	£228

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