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Preconception carrier screening test


​The UMCG preconception carrier screening test determines if you and your partner or gamete donor are carriers of one of the approximately 70 inheritable diseases examined by the test. Each of these diseases meets one or more of the following criteria:

  • The disease develops at a young age.
  • The disease is not curable.
  • The disease is usually difficult to treat.
  • A child with the disease is likely to be severely physically disabled.
  • A child with the disease is likely to be severely developmentally delayed.
  • A child with the disease is likely to die at a young age.

The test includes some diseases that are treatable if they are diagnosed early and treatment begins very soon after birth.

Test via fertility clinic

The UMCG preconception carrier screening test for couples is offered via selected fertility clinics in the UK. These clinics inform the couples about the test. Please note, it can take up to 6 weeks for your result to be available.

Request form for doctors

Doctors of the clinics who have this arrangement with the UMCG need a request form for the test.

List of diseases

Below is an alphabetical list of the diseases tested by the UMCG carrier screening panel, followed by the genes tested in parentheses. You can find more information about these disorders at the Genetics Home Reference of the U.S. National Library of Medicine. Or ask your health care provider about them.


Alpha-mannosidosis (MAN2B1)
Andermann syndrome (SLC12A6)
Aspartylglucosaminuria (AGA)
Ataxia telangiectasia (ATM)
Ataxia with vitamin E deficiency (TTPA)


Bloom syndrome (BLM (RECQL3))


Canavan disease (ASPA)
Citrullinemia type 1 (ASS1)
Congenital disorder of glycosylation type 1A (PMM2)
Congenital nephrotic syndrome, Finnish type (NPHS1)
Cystic fibrosis (CFTR)


D-Bifunctional protein deficiency (HSD17B4)
Dihydrolipoamide dehydrogenase deficiency (DLD)


Epidermolysis Bullosa, junctional (LAMA3, LAMB3, LAMC2, COL17A1)
Epidermolysis Bullosa, dystrophic (COL7A1)


Familial Dysautonomia (IKBKAP)
Fanconi aneamia, complementation group C (FANCC)


Glutaric acidemia type I (GCDH)
Glycogen storage disease type Ia (G6PC)
Glycogen storage disease II (GAA)
GM2 Gangliosidosis, mainly Tay-Sachs disease (HEXA)
GRACILE syndrome (BCS1L)


Homocystinuria (CBS)
Hypophosphatasia (ALPL)


Infantile sialic acid storage disease (SLC17A5)
Isovaleric acidemia (IVD)


Joubert syndrome 2 (TMEM216)


Krabbe disease (GALC)


LCHAD deficiency (trifunctional protein deficiency) (HADHA)
Leukoencephalopathy with vanishing white matter (EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5)
Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS) (NSMCE3)


Maple syrup urine disease (MSUD) (BCKDHB)
Meckel syndrome 2 (TMEM216)
Medium chain acyl-CoA dehydrogenase deficiency (MCAD) (ACADM)
Megalencephalic leukoencephalopathy (MLC1)
Metachromatic leukodystrophy (ARSA)
Methylmalonic aciduria (MUT)
Mitochondrial recessive ataxia syndrome (POLG)
Mitochondrial DNA depletion syndromes type 4A (POLG)
Mitochondrial DNA depletion syndrome ​type 4 B (POLG)
Mucolipidosis IV (MCOLN1)
Mucopolysaccharidosis I (Hurler, Hurler-Scheie) (IDUA)
Mucopolysaccharidosis III, Sanfilippo syndrome (SGSH, NAGLU, HGSNAT, GNS)
Mucopolysaccharidosis IV, Morquio syndrome (GALNS, GLB1)
Mucopolysaccharidosis VI, Maroteaux-Lamy syndrome (ARSB)
Mucopolysaccharidosis VII, Sly syndrome (GUSB)
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies) type A (3,5,7,10) (ISPD, TMEM5, FKRP, POMGNT1)


Neuronal ceroid lipofuscinosis, type 1 (PPT1)
Neuronal ceroid lipofuscinosis, type 2 (TPP1)
Neuronal ceroid lipofuscinosis type 3, Batten-Spielmeyer-Vogt’s disease (CLN3)
Neuronal ceroid lipofuscinosis type 5, Finnish variant (CLN5)
Neuronal ceroid lipofuscinosis type 8 & Progressive epilepsy and mental retardatiom(CLN8)
Niemann-Pick disease (NPC1, SMPD1)
Nijmegen breakage syndrome (NBN)


Ornithine transcarbamylase deficiency (OTC)
Osteogenesis imperfecta, type VII (CRTAP)
Osteopetrosis (TCIRG1)


Pena-Shokeir syndrome type 1 (MUSK)
Polycystic kidney disease (PKHD1)
Pontocerebellar hypoplasia type 1 (VRK1)
Pontocerebellar hypoplasia type 2 (A, B and C) (TSEN54, TSEN2, TSEN34)
Pontocerebellar hypoplasia type 6 (RARS2)
Propionic acidemia (PCCA)


Rhizomelic chondrodysplasia punctata (PEX7, GNPAT, AGPS)


Sickle cell anaemia (HBB)
Sjögren-Larsson syndrome (ALDH3A2)
Smith-Lemli-Opitz syndrome (DHCR7)
Spastic ataxia (Charlevoix-Saguenay type) (SACS)
Spinal muscular atrophy (SMA), type 0/1 (SMN1)


Thalassemia (alpha-) (HBA1, HBA2)
Tyrosinemia, type I (FAH)


VLCAD deficiency (ACADVL)


Zellweger syndrome (PEX1, PEX12)

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