Hieronder vindt u een overzicht van de laatst toegevoegde aandoeningen.

Klik op de naam van de aandoening om informatie over het aanvragen van de betreffende diagnostiek te tonen.

Ga voor het zoeken in het volledige aanbod van moleculaire diagnostiek naar de pagina Aanvraag.

naam	gen	details aandoening (OMIM)
ALMS1 gene; ALMS1	ALMS1	OMIM
Alstrom syndrome; ALMS	ALMS1	OMIM
Amyotrophic lateral sclerosis 11; ALS11	FIG4	OMIM
Amyotrophic lateral sclerosis 4, juvenile (ALS4)	ALS4	OMIM
Amyotrophic lateral sclerosis 4, juvenile; ALS4	SETX	OMIM
Ataxia-oculomotor apraxia type 2 (AOA2)	SETX	OMIM
Atrial fibrillation with bradyarrhythmia, sinus node disease, familial, autosomal dominant sinus bradycardia syndrome	HCN4	OMIM
Brachydactyly type A1	IHH	OMIM
Brachydactyly type B2	NOG	OMIM
Brachydactyly type D	HOXD13	OMIM
Brachydactyly type E	HOXD13	OMIM
Charcot-Marie-Tooth disease, dominant intermediate B	DNM2	OMIM
Charcot-Marie-Tooth disease, type 2B1; CMT2B1	LMNA	OMIM
Charcot-Marie-Tooth disease, type 4H; CMT4H	FGD4	OMIM
Cohen syndrome; COH1	VPS13B	OMIM
Congenitale stationaire nachtblindheid type 1.	NYX	OMIM
Congenitale stationaire nachtblindheid type 1A	TRPM1	OMIM
Congenitale stationaire nachtblindheid type 1B	GRM6	OMIM
Congenitale stationaire nachtblindheid type 2.	CACNA1F	OMIM
Congenitale stationaire nachtblindheid type 2B	CABP4	OMIM
Cysteinurie	SLC3A1	OMIM
Distal spinal muscular atrophy (distal SMA), scapuloperoneal SMA; hereditary motor and sensory neuropathy type 2c (HMSN2C)	TRPV4	OMIM
Dopa responsieve dystonie / Sepiapterine reductase deficiëntie	SPR	OMIM
Epilepsie, Benigne Familiaire Neonatale Convulsies 2 (BFNC2)	KCNQ3	OMIM
Faciogenital dysplasia (Aarskog-Scott syndroom)	FGD1	OMIM
Femal restricted epilepsy with mental retardation (EFMR)	PCDH19	OMIM
Frontonasale dysplasie	ALX3	OMIM
Hemochromatose type 4	FPN1	OMIM
Hennekam lymphangiectasia-lymphedema syndrome	CCBE1	OMIM
Hypocalciuric hypercalcemia, familial, type I (HHC1)	CASR	OMIM
Ichtyosis, lamellar, type 2 (LI2)	ABCA12	OMIM
Ichtyosis, lamellar, type 3 (LI3)	CYP4F22	OMIM
Leptin receptor; lepr obesity, morbid, with hypogonadism, included	LEPR	OMIM
Long QT syndrome type 9	CAV3	OMIM
Lujan-Fryns syndroom	MED12	OMIM
Macular dystrofie (basal laminar drusen)	CFH	OMIM
Mentale retardatie, X-linked, syndromaal 14 (MRXS14)	UPF3B	OMIM
Mentale retardatie, X-linked, syndromaal, ZDHHC9-gerelateerd	ZDHHC9	OMIM
Microcephalie, primair autosomaal recessief (MCPH5)	ASPM	OMIM
Myoclonus dystonie	SGCE	OMIM
Myopathy, centronuclear, autosomal dominant	DNM2	OMIM
Noonan syndroom	SHOC	OMIM
Noonan syndroom	NRAS	OMIM
Obesity, early-onset, adrenal insufficiency, and red hair	TGFB3	OMIM
Obesity, severe, dü to leptin deficiency, included	LEP	OMIM
Opitz GBBB syndroom, X-linked	MID1	OMIM
Opitz-Kaveggia syndroom	MED12	OMIM
Parietal foramina-2; PFM2	ALX4	OMIM
Pontocerebellar hypoplasia type 2A; PCH2A	TSEN54	OMIM
Pontocerebellar hypoplasia type 2B; PCH2B	TSEN2	OMIM
Pontocerebellar hypoplasia type 2C; PCH2C	TSEN34	OMIM
Pontocerebellar hypoplasia type 4; PCH4	TSEN54	OMIM
Pontocerebellar hypoplasia type 6; PCH6	RARS2	OMIM
Proopiomelanocortin deficiency	POMC	OMIM
Proopiomelanocortin; POMC	POMC	OMIM
Proprotein convertase 1/3 deficiency obesity and endocrinopathy dü to impaired processing of prohormones	PCSK1	OMIM
Proprotein convertase, subtilisin/kexin-type, 1; PSCK1	PCSK1	OMIM
Renal glucosuria (GLYS1)	SLC5A2	OMIM
Restrictieve dermatopathie	ZMPSTE24	OMIM
Robinow syndroom, autosomaal dominant	WNT5A	OMIM
Sesame syndrome (seizures, sensorineural deafness, ataxia, mental retardation, electrolyte imbalance)	KCNJ10	OMIM
Sick sinus syndrome 2, autosomal dominant; SSS2	HCN4	OMIM
Sideroblastaire anemie en spinocerebellaire ataxie (ASAT)	ABCB7	OMIM
Spastic paraplegia 10, autosomal dominant (SPG10)	KIF5A	OMIM
Spinocerebellar ataxia, autosomal recessive 1 (SCAR1)	SETX	OMIM
Ter Haar syndroom	SH3PXD2B	OMIM
Torsin-a; DYT1	TOR1A	OMIM