Phaeochromocytoma and Paraganglioma Disorders 9 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 Note: MLPA of SDHB+SDHC+SDHD+VHL only	Postnatal Diagnosis Routine	Birmingham RGC	56	£600
Testing for known mutations in family members	Postnatal Diagnosis Routine	Birmingham RGC	28	£183

Genes & Disorders

Show alternative names & symbols

Disorders	Symbol	MIM	Links
Hereditary Leiomyomatosis And Renal Cell Cancer Leiomyoma, Hereditary Multiple, Of Skin Leiomyoma, Multiple Cutaneous Leiomyomatosis And Renal Cell Cancer, Hereditary Multiple Cutaneous And Uterine Leiomyomata 1, With Or Without Renal Cell Carcinoma	HLRCC LRCC MCL MCUL1	150800	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
Paraganglioma and Gastric Stromal Sarcoma Carney-Stratakis Syndrome Paraganglioma and Gastrointestinal Stromal Tumor Paraganglioma and Gastrointestinal Stromal Tumour	GIST	606864	Genetic Test Registry
Paragangliomas 2 Glomus Tumors, Familial, 2	PGL2	601650	Genetic Test Registry
Paragangliomas 3 Glomus Tumors, Familial, 3 Glomus Tumours, Familial, 3	PGL3	605373	Genetic Test Registry
Phaeochromocytoma pheochromocytoma		171300	Genetic Test Registry
Thyroid Carcinoma, Familial Medullary Mtc1 Mtcf	MTC	155240	Genetic Test Registry
Von Hippel-Lindau Syndrome Von Hippel Lindau	VHL	193300	Genetic Test Registry

Genes	Symbol	MIM	HGNC	Links
fumarate hydratase fumarase fumarate hydratase, cytosolic, included fumarate hydratase, mitochondrial	FH FH1 FH2	136850	3700
MYC associated factor X MYC-associated factor X	MAX	154950	6913
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
succinate dehydrogenase complex assembly factor 2 paraganglioma or familial glomus tumors 2 succinate dehydrogenase 5	SDHAF2 PGL2 SDH5	613019	26034
succinate dehydrogenase complex iron sulfur subunit B paraganglioma, familial malignant, included paragangliomas, familial nonchromaffin, 4, included SDH2, homolog of succinate dehydrogenase 1, iron sulfur subunit succinate dehydrogenase 2, s. cerevisiae, homolog of succinate dehydrogenase complex, subunit B, iron sulfur (IP) succinate dehydrogenase complex, subunit B, iron sulfur protein	SDHB PGL4 SDH SDH1	185470	10681
succinate dehydrogenase complex subunit C succinate dehydrogenase 3, integral membrane subunit succinate dehydrogenase complex, subunit C, integral membrane protein, 15-kd succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa succinate dehydrogenase cytochrome B	SDHC PGL3 SDH3	602413	10682
succinate dehydrogenase complex subunit D sdhd succinate dehydrogenase 4, integral membrane protein succinate dehydrogenase complex, subunit D, integral membrane protein	SDHD PGL PGL1 SDH4	602690	10683
transmembrane protein 127	TMEM127	613403	26038
von Hippel-Lindau tumor suppressor VHL gene von hippel-lindau syndrome von hippel-lindau tumor suppressor Von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	VHL VHL1	608537	12687

Testing Criteria & Gene Dossiers

Testing criteria	Phaeochromocytoma and Paraganglioma Disorders 9 Gene Panel

Specialties

Specialties	Clinical Genetics Endocrinology, Adult

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