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Recessively inherited conditions

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​Using the preconception UMCG carrier screening test couples can be screened for an increased risk of having a child with one of approximately 70 severe recessively inherited conditions. These early onset conditions have been included in the preconception test based on the following criteria:

  • A child with the disease is in severe pain.
  • A child with the disease is severely physically and/or intellectually impaired.
  • The disease may lead to early death.
  • The disease occurs more frequently in persons of Jewish descent.

When a gene is also associated with milder forms of a disorder, if possible only the sequence variants associated with the severe form of the condition are examined. An alphabetized list of conditions included in the preconception screenings test, as well as the associated gene(s) tested in parentheses, is given below.

A

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

B

Bloom syndrome (BLM (RECQL3))

C

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

D

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

E

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

F

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

G

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

H

Homocystinuria (CBS)
Hypophosphatasia (ALPL)

I

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

J

Joubert syndrome 2 (TMEM216)

K

Krabbe disease (GALC)

L

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

M

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)

N

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 retardation (CLN8)
Niemann-Pick disease (NPC1, SMPD1)
Nijmegen breakage syndrome (NBN)

O

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

P

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)

R

Rhizomelic chondrodysplasia punctata (PEX7, GNPAT, AGPS)

S

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

T

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

V

VLCAD deficiency (ACADVL)

Z​

Zellweger syndrome (PEX1, PEX12)

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