Hyper/Hypoparathyroidism and Related Disorders 7 Gene Panel

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	Leeds RGC	112	£860
Testing for known mutations in family members	Postnatal Diagnosis Routine	Leeds RGC	14	£170

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Carney Complex, Type 1 Carney Myxoma-Endocrine Complex Carney Syndrome Lamb Syndrome Myxoma, Spotty Pigmentation, And Endocrine Overactivity Name Syndrome	CNC1 CAR	160980	Genetic Test Registry
Central Hypoventilation Syndrome, Congenital Autonomic Control, Congenital Failure Of Cchs With Hirschsprung Disease, Included Congenital Central Hypoventilation Syndrome Haddad Syndrome, Included Ondine Curse, Congenital Ondine-Hirschsprung Disease, Included	CCHS CCHS OHD	209880	Genetic Test Registry
Hirschsprung Disease, Susceptibility To, 1 Aganglionic Megacolon Hirschsprung Disease Hirschsprung Disease 1 Megacolon, Aganglionic	HSCR1 HSCR MGC	142623	Genetic Test Registry
Hyperparathyroidism 1 Hyperparathyroidism, Familial Isolated Primary	HRPT1 FIHP	145000	Genetic Test Registry
Hyperparathyroidism 2 With Jaw Tumors Fibromas Hyperparathyroidism 2 Hyperparathyroidism, Familial Primary, With Multiple Ossifying Jaw Hyperparathyroidism-Jaw Tumor Syndrome, Hereditary Parathyroid Adenomatosis, Familial Cystic, Included	HRPT2 HPT-JT	145001	Genetic Test Registry
Hyperparathyroidism, Neonatal Severe Hyperparathyroidism, Neonatal Severe Primary NHPT NSPH	NSHPT	239200	Genetic Test Registry
Hypocalcemia, Autosomal Dominant 1	HYPOC1	601198	Genetic Test Registry
Hypocalciuric Hypercalcemia, Familial, Type I Familial Benign Hypercalcemia 1 FHH1 Hypercalcemia, Familial Benign Hypocalciuric Hypercalcemia, Acquired, Included	HHC1 FBH1	145980	Genetic Test Registry
Multiple Endocrine Neoplasia, Type I Endocrine Adenomatosis, Multiple Mea I Men I Menin, Included Wermer Syndrome Zollinger-Ellison Syndrome, Included	MEN1 ZES	131100	Genetic Test Registry
Multiple Endocrine Neoplasia, Type IIA Multiple Endocrine Neoplasia, Type II Phaeochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma PTC Syndrome Sipple Syndrome Thyroid Carcinoma, Familial Medullary, Included	MEN2A FMTC MEN2	171400	Genetic Test Registry
Multiple Endocrine Neoplasia, Type IIB Ganglioneuromatosis Of The Alimentary Tract, Included Mucosal Neuroma Syndrome Multiple Endocrine Neoplasia, Type III, Formerly Neuromata, Mucosal, With Endocrine Tumors Wagenmann-Froboese Syndrome	MEN2B MEN3, FORMERLY	162300	Genetic Test Registry
Multiple Endocrine Neoplasia, Type IV	MEN4	610755	Genetic Test Registry
Myxoma, Intracardiac Atrial Myxoma, Familial		255960	Genetic Test Registry
Parathyroid Carcinoma	PRTC	608266	Genetic Test Registry
Phaeochromocytoma pheochromocytoma		171300	Genetic Test Registry
Pituitary Adenoma, ACTH-Secreting Cushing Disease, Pituitary		219090	Genetic Test Registry
Pituitary Adenoma, Growth Hormone-Secreting 1 Acromegaly Due To Pituitary Adenoma Isolated Familial Somatotropinoma Pituitary Adenoma Predisposition, Included Pituitary Adenoma, Familial Isolated, Included Pituitary Adenoma, Growth Hormone-Secreting Somatostatin Analog, Resistance To, Included Somatotrophinoma, Familial Somatotropinoma, Familial Isolated	PAGH1 FIPA FIS IFS PAP	102200	Genetic Test Registry
Pituitary Adenoma, Prolactin-Secreting Prolactinoma, Familial		600634	Genetic Test Registry
Renal Hypodysplasia/Aplasia 1 Hereditary Renal Aplasia Renal Adysplasia Renal Agenesis Renal Aplasia	RHDA1 HRA	191830	Genetic Test Registry
Thyroid Cancer, Nonmedullary 1 Familial Nonmedullary Thyroid Cancer, Papillary Nonmedullary Thyroid Carcinoma, Papillary Papillary Carcinoma Of Thyroid Thyroid Carcinoma, Papillary	NMTC1 PACT	188550	Genetic Test Registry
Thyroid Carcinoma, Familial Medullary Mtc1 Mtcf	MTC	155240	Genetic Test Registry

Genes	Symbol	MIM	HGNC
aryl hydrocarbon receptor interacting protein	AIP ARA9 FKBP16 XAP2	605555	358
calcium sensing receptor calcium-sensing receptor hypocalciuric hypercalcemia 1 parathyroid ca(2+)-sensing receptor 1	CASR FHH GPRC2A HHC HHC1 NSHPT PCAR1	601199	1514
cell division cycle 73 c1orf28 cell division cycle 73, PAF1/RNA polymerase II complex component, homolog (s. cerevisiae) hyperparathyroidism 2 (with jaw tumor) hyperparathyroidism 2 gene parafibromin	CDC73 C1ORF28 HRPT2	607393	16783
cyclin-dependent kinase inhibitor 1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)	CDKN1B KIP1 p27(KIP1)	600778	1785
menin 1 menin multiple endocrine adenomatosis i multiple endocrine neoplasia I	MEN1 MEAI	613733	7010
protein kinase cAMP-dependent type I regulatory subunit alpha protein kinase cAMP-dependent, regulatory, type I, alpha protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) tissue-specific extinguisher 1	PRKAR1A CNC1	188830	9388
ret proto-oncogene hirschsprung disease 1 rearranged during transfection protooncogene ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, hirschsprung disease) ret protooncogene ret/elks fusion gene, included	RET CDHR16	164761	9967

Testing Criteria & Gene Dossiers

Testing criteria	Hyper/Hypoparathyroidism and Related Disorders 7 Gene Panel

Gene dossier	Hereditary Cancers 82 Gene Panel (consisting of 10 tests) Leeds RGC

Specialties

Specialties	Clinical Genetics Oncology, Adult