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Analytes
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Disease
Laboratory
Hereditary Spastic Paraplegia (gene panel)
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Peripheral neuropathy (gene panel)
Neuropathy (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Hearing loss, STRC gene
STRC
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Centrum Medische Genetica - UZ Antwerpen
Amyloidosis, cardiac (full screening of the 4 exons for TTR)
TTR
Hereditary ATTR amyloidosis
Centrum Medische Genetica - UZ Antwerpen
Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
DPYD
5-fluorouracil toxicity
Centrum Medische Genetica - UZ Antwerpen
Epilepsy without developmental delay, familial (gene panel)
(Familial) epilepsy without developmental delay (gene panel)
Centrum Medische Genetica - UZ Antwerpen
Adrenogenital syndrome
CYP21A2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
,
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Centrum Medische Genetica - UZ Antwerpen
Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
Yq11
Partial chromosome Y deletion
Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Medische Genetica - UZ Antwerpen
Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel)
DMD
Duchenne muscular dystrophy
,
Becker muscular dystrophy
,
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Centrum Medische Genetica - UZ Antwerpen
Breast and Ovarian Cancer, hereditary, HBOC, Familial (gene panel)
BRCA1
,
BRCA2
,
PALB2
,
TP53
,
CHEK2
,
ATM
,
BRIP1
,
RAD51C
,
RAD51D
,
MLH1
,
MSH2
,
MSH6
,
BARD1
Breast/ ovarian cancer (12 genes) - UZA
Hereditary breast cancer
,
Hereditary breast and/or ovarian cancer syndrome
Centrum Medische Genetica - UZ Antwerpen
Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel)
Cardiomyopathy (genepanel) - UZA
Familial isolated dilated cardiomyopathy
,
Familial isolated restrictive cardiomyopathy
,
Left ventricular noncompaction
,
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Centrum Medische Genetica - UZ Antwerpen
Carnitine Palmitoyl transferase type II
CPT2
Carnitine palmitoyl transferase II deficiency, severe infantile form
,
Carnitine palmitoyl transferase II deficiency, neonatal form
,
Carnitine palmitoyl transferase II deficiency, myopathic form
Centrum Medische Genetica - UZ Antwerpen
Cerebral palsy (gene panel)
Cerebral palsy (212 genes) - UZA
Centrum Medische Genetica - UZ Antwerpen
Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
PMP22
Charcot-Marie-Tooth disease type 1A
,
Hereditary neuropathy with liability to pressure palsies
,
Charcot-Marie-Tooth disease type 1E
Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (50 hot spot mutations)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Idiopathic pulmonary fibrosis
,
Hereditary chronic pancreatitis
Centrum Medische Genetica - UZ Antwerpen
Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene)
CFTR
Cystic fibrosis
,
Congenital bilateral absence of vas deferens
,
Hereditary chronic pancreatitis
,
Idiopathic bronchiectasis
Centrum Medische Genetica - UZ Antwerpen
Hearing loss (deafness), (gene panel)
Hearing loss (deafness) (genepanel) - UZA
Centrum Medische Genetica - UZ Antwerpen
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
MT-RNR1
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
Centrum Medische Genetica - UZ Antwerpen
Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
ATN1
Dentatorubral pallidoluysian atrophy
Centrum Medische Genetica - UZ Antwerpen
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