A – Z: Genetics


AARSKOG-SCOTT SYNDROME (FACIOGENITAL DYSPLASIA)

ACRODYSOSTOSIS TYPE 1 (ACRDYS1) AND ACRODYSOSTOSIS TYPE 2 (ACRDYS2)

ACROGIGANTISM, X-LINKED

ACUTE MYELOID LEUKAEMIA (NPMc+)

ACUTE PROMYELOCYTIC LEUKAEMIA (APL)

ALAGILLE SYNDROME

Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins (ACD/MPV)

AORTIC VALVE DISEASE

ATYPICAL PROGEROID SYNDROME

B AND T-CELL CLONALITY

BOSLEY-SALIH-ALORAINY SYNDROME (BSAS)

BRAIN SMALL-VESSEL DISEASE WITH HAEMORRHAGE

CARNEY COMPLEX

CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY (CADASIL)

CHARCOT-MARIE-TOOTH DISEASE TYPE 2B1

CHONDRODYSPLASIA PUNCTATA

CHRONIC LYMPHOCYTIC LEUKAEMIA (CLL)

CHRONIC LYMPHOPROLIFERATIVE DISORDERS OF NATURAL KILLER CELLS

CHRONIC MYELOID LEUKAEMIA (CML): BCR-ABL KINASE DOMAIN SEQUENCING

CHRONIC MYELOID LEUKAEMIA (CML): BCR-ABL DIAGNOSTIC SCREEN & MONITORING

CHRONIC NEUTROPHILIC LEUKAEMIA (CNL) AND ATYPICAL CML: CSF3R MUTATIONS

COLE DISEASE

COMBINED PITUITARY HORMONE DEFICIENCY

CONE ROD DYSTROPHY

CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES (CFEOM)

CONGENITAL GENERALISED LIPODYSTROPHY (CGL)

CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM NEVUS AND LIMB DEFECTS (CHILD) SYNDROME

CONGENITAL HYPOTHYROIDISM

CURRARINO SYNDROME

Cystic Fibrosis

Dilated Cardiomyopathy Type 1A

DUANE RADIAL RAY SYNDROME (OKIHIRO SYNDROME)

DUANE RETRACTION SYNDROME (DRS)

EMERY DREIFUSS MUSCULAR DYSTROPHY (EDMD)

ENDOCRINE DISORDER NGS PANEL TESTS

ENDOCRINE NEOPLASIA SYNDROMES

Exome Sequencing

Exome, genome and targeted next generation sequencing panels

FAMILIAL GLUCOCORTICOID DEFICIENCY

FAMILIAL HYPOCALCIURIC HYPERCALCAEMIA

FAMILIAL ISOLATED HYPERPARATHYROIDISM

FAMILIAL ISOLATED HYPOPARATHYROIDISM

FANCONI- BICKEL SYNDROME

Feingold Syndrome

FOLLICULAR LYMPHOMA

GASTROINTESTINAL ATRESIA

GENERALISED ARTERIAL CALCIFICATION OF INFANCY

GLUCOCORTICOID DEFICIENCY

GLUCOSE GALACTOSE MALABSORPTION

HAEMOCHROMATOSIS

HAIRY CELL LEUKAEMIA (HCL)

HAJDU-CHENEY SYNDROME

HEPATIC ADENOMAS

HEREDITARY ANGIOPATHY WITH NEPHROPATHY, ANEURYSMS AND MUSCLE CRAMPS (HANAC) SYNDROME

Heritable Thrombophilia

HIRSCHSPRUNG DISEASE

HLA-B27-related Spondyloarthritides

HOLOPROSENCEPHALY

HORIZONTAL GAZE PALSY WITH PROGRESSIVE SCOLIOSIS (HGPPS)

HUTCHINSON-GILFORD PROGERIA SYNDROME

HYPERINSULINISM

HYPERPHOSPHATEMIC FAMILIAL TUMORAL CALCINOSIS

HYPERTHYROIDISM

HYPOPHOSPHATEMIC RICKETS

HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA

In silico tools used for the interpretation of novel variants

IPEX SYNDROME

ISOLATED PITUITARY ADENOMA

LATERAL MENINGOCELE SYNDROME (LEHMAN SYNDROME)

LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 1B

MALIGNANT MELANOMAS

Mandibular hypoplasia, Deafness and Progeroid (MDP) Syndrome

MANDIBULOACRAL DYSPLASIA

MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY

MANTLE CELL LYMPHOMA (MCL)

MATERNALLY INHERITED DIABETES AND DEAFNESS

Maturity-Onset Diabetes of the Young (MODY)

MEDULLARY THYROID CARCINOMA

METASTATIC COLORECTAL CANCER – KRAS, NRAS AND BRAF TESTING

MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 (MEN1)

Multiple Endocrine Neoplasia Type 2A (MEN2A) & Multiple Endocrine Neoplasia Type 2B (MEN2B)

MULTIPLE ENDOCRINE NEOPLASIA TYPE 4 (MEN4)

MULTIPLE EXOSTOSES

MYELOPROLIFERATIVE DISORDERS (MPD): CALR EXON 9 MUTATIONS

MYELOPROLIFERATIVE DISORDERS (MPD): JAK2 EXON 12 MUTATIONS

MYELOPROLIFERATIVE DISORDERS (MPD): JAK2 p.V617F MUTATION

MYELOPROLIFERATIVE DISORDERS (MPD): MPL EXON 10 MUTATIONS

NEONATAL DIABETES

NEONATAL DIABETES MELLITUS & CEREBELLAR AGENESIS

NEONATAL DIABETES MELLITUS & CONGENITAL HYPOTHYROIDISM (NDH SYNDROME)

NESTOR-GUILLERMO PROGERIA SYNDROME

NON-AUTOIMME HYPERTHYROIDISM

NON-INVASIVE CELL FREE FETAL RHESUS D (RHD) GENOTYPING

NON-SMALL CELL LUNG CANCER

PARTIAL LIPODYSTROPHY

PHAEOCHROMOCYTOMA & PARAGANGLIOMA

Pontocerebellar Hypoplasia

PORENCEPHALY

PREDICTION OF 5-FLUOROURACIL TOXICITY

PREDICTION OF IRINOTECAN TOXICITY

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

Pseudohypoaldosteronism Type 2

PSEUDOXANTHOMA ELASTICUM

PYRIDOXINE DEPENDENT EPILEPSY

RENAL CYSTS AND DIABETES (RCAD)

Reporting Time Data 2016/2017

RESTRICTIVE DERMOPATHY

SPECIMEN SOURCE IDENTIFICATION

SPONDYLOCOSTAL DYSOSTOSIS

SYSTEMIC MASTOCYTOSIS

T-CELL LARGE GRANULAR LYMPHOCYTIC LEUKAEMIAS

THIAMINE RESPONSIVE MEGALOBLASTIC ANAEMIA

VISCERAL HETEROTAXY

VON HIPPEL-LINDAU SYNDROME (VHL)

WALDENSTROM’S MACROGLOBULINEMIA

WERNER SYNDROME

WOLCOTT RALLISON SYNDROME


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