A-Z: Genomic tests by gene

A

• ABCC6 – Generalised Arterial Calcification Of Infancy And Adult-Onset Calcification Of Joints And Arteries
• AGPAT2 – Congenital Generalised Lipodystrophy (CGL)
• AIP – Familial Isolated Pituitary Adenoma
• AP2S1 – Familial Isolated Hyperparathyroidism
• ARSL (previously ARSE) – Chondrodysplasia Punctata

B

• BANF1 – Nestor-Guillermo Progeria Syndrome
• BSCL2 – Congenital Generalised Lipodystrophy (CGL)

C

• CASR – Familial Isolated Hyperparathyroidism
• CASR – Familial Isolated Hypoparathyroidism
• CAV1 – Congenital Generalised Lipodystrophy (CGL)
• CDC73 – Familial Isolated Hyperparathyroidism
• CDC73 – Endocrine Neoplasia Syndromes
• CDKN1B – Multiple Endocrine Neoplasia Type 4 (MEN4)
• CHD7 – Disorders Of Sex Development
• CHD7 – Hypogonadotropic Hypogonadism
• CHD7 – Pituitary Hormone Deficiency
• COL4A1 – Familial Porencephaly
• COL4A2 – Hereditary Angiopathy With Nephropathy, Aneurysms And Muscle Cramps (Hanac) Syndrome
• CUL3 – Pseudohypoaldosteronism Type 2

D

• DLL3 – Spondylocostal Dysostosis
• DMP1 – Hypophosphatemic Rickets

E

• EFTUD2 – Mandibulofacial Dysostosis With Microcephaly
• ENPP1 – Hypophosphatemic Rickets

F

• FANCB – Growth Failure In Early Childhood
• FANCC – Growth Failure In Early Childhood
• FGD1 – Aarskog-Scott Syndrome (Faciogenital Dysplasia)
• FGF23 – Hypophosphataemic Rickets
• FGF23 – Hyperphosphatemic Familial Tumoral Calcinosis
• FGF8 – Hypogonadotropic Hypogonadism
• FGF8 – Pituitary Hormone Deficiency
• FH – Phaeochromocytoma and Paraganglioma
• FOXE1 (TTF2)- Congenital Hypothyroidism

G

• GALNT3 – Hyperphosphatemic Familial Tumoral Calcinosis
• GCM2 – Familial Isolated Hyperparathyroidism
• GCM2 – Familial Isolated Hypoparathyroidism
• GLI2 – Pituitary Hormone Deficiency
• GLI3 – Pituitary Hormone Deficiency
• GNA11 – Familial isolated hyperparathyroidism
• GNA11 – Familial isolated hypoparathyroidism

H

• HES7 – Spondylocostal Dysostosis
• HESX1 – Congenital Hypothyroidism
• HESX1 – Pituitary Hormone Deficiency

J

• JAG1 – Alagille Syndrome

K

• KL – Hyperphosphatemic Familial Tumoral Calcinosis
• KLHL3 – Pseudohypoaldosteronism Type 2

L

• LFNG – Spondylocostal Dysostosis
• LMNA – tests for diabetes subtypes, a new test for all MODY genes
• LMNA – Partial Lipodystrophy
• LMNA – Congenital Generalised Lipodystrophy (Cgl)

M

• MAX – Phaeochromocytoma & Paraganglioma
• MC2R – Congenital Adrenal Hypoplasia (AHC)
• MEN1 – Multiple Endocrine Neoplasia Type 1
• MESP2 – Spondylocostal Dysostosis
• MRAP – Congenital Adrenal Hypoplasia (AHC)
• MYCN – Feingold Syndrome

N

• NKX2-1 (TTF1) – Congenital Hypothyroidism
• NKX2-5 – Congenital Hypothyroidism
• NNT – Congenital Adrenal Hypoplasia (AHC)
• NOTCH2 – Alagille Syndrome
• NOTCH3 – Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy (Cadasil)

P

• PAX8 – Congenital Hypothyroidism
• PDE11A – Primary Pigmented Nodular Adrenocortical Disease
• PDE8B – Primary Pigmented Nodular Adrenocortical Disease
• PHEX – Hypophosphatemic Rickets
• PIK3R1– tests for diabetes subtypes, a new test for all MODY genes
• PIK3R1– Growth Failure In Early Childhood
• PIK3R1– Congenital Generalised Lipodystrophy (Cgl)
• PLIN1– tests for diabetes subtypes, a new test for all MODY genes
• PLIN1 – Congenital Generalised Lipodystrophy (CGL)
• PLIN1 – Partial Lipodystrophy
• POLD1– tests for diabetes subtypes, a new test for all MODY genes
• POLD1– Congenital Generalised Lipodystrophy (CGL)
• POU1F1- Congenital Hypothyroidism
• POU1F1- Pituitary Hormone Deficiency
• PPARG – Congenital Generalised Lipodystrophy (CGL)
• PPARG – Partial Lipodystrophy
• PPARG – tests for diabetes subtypes, a new test for all MODY genes
• PRKAR1A – Congenital Hypothyroidism
• PRKAR1A – Carney Complex
• PRKAR1A – Primary Pigmented Nodular Adrenocortical Disease
• PROP1 – Congenital Hypothyroidism
• PROP1 – Pituitary Hormone Deficiency
• PTH -Familial Isolated Hypoparathyroidism
• PTRF – Congenital Generalised Lipodystrophy (CGL)

R

• RET – Multiple Endocrine Neoplasia Type 2A (MEN2A) & Multiple Endocrine Neoplasia Type 2B (MEN2B)
• RFX6 – tests for diabetes subtypes, a new test for all MODY genes
• RFX6 – Congenital Generalised Lipodystrophy (CGL)

S

• SAMD9 – Disorders Of Sex Development
• SAMD9 – Congenital Adrenal Hypoplasia (AHC)
• SDHA – Phaeochromocytoma & Paraganglioma
• SDHAF2 – Phaeochromocytoma & Paraganglioma
• SDHB – Phaeochromocytoma & Paraganglioma
• SDHC – Phaeochromocytoma & Paraganglioma
• SDHD – Phaeochromocytoma & Paraganglioma
• SLC2A2 – Fanconi- Bickel Syndrome
• SLC34A3 – Hypophosphatemic Rickets With Hypercalciuria
• SOS1 – Growth Failure In Early Childhood
• SOX2 – Pituitary Hormone Deficiency
• STAR – Disorders Of Sex Development
• STAR – Congenital Adrenal Hypoplasia (AHC)

T

• TMEM127 – Phaeochromocytoma & Paraganglioma
• TSHR – Congenital Hypothyroidism
• TSHR – Hyperthyroidism

V

• VHL – Phaeochromocytoma & Paraganglioma

W

• WNK4 – Pseudohypoaldosteronism Type 2
• WRN – Werner Syndrome

Z

• ZMPSTE24 – tests for diabetes subtypes, a new test for all MODY genes
• ZMPSTE24 – Congenital Generalised Lipodystrophy (CGL)