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Information on the turnaround time can be found under Preanalytics & TAT.

Single gene analyses

*carried out in collaborating laboratories

disorder/disease gene/chromosomal region synonym method 1, method 2

material 
(if different from 3-5ml EDTA
blood or 1-5 µg DNA)
A
        
Albright syndrome GNAS   sequencing analysis, MLPA  
alpha-1-antitrypsin deficiency SERPINA1 AAT deficiency sequencing analysis  
alpha thalassemia HBA1, HBA2 hemoglobinopathy MLPA, sequencing analysis  
Angelman syndrome SNRPN gene region (15q11-q13) AS methylation-specific MLPA  
Angelman syndrome UBE3A AS sequencing analysis  
antithrombin 3 deficiency* SERPINC1   sequencing analysis, MLPA  
Alström syndrome ALMS1 ALMS sequencing analysis
B
        
Beckwith-Wiedemann syndrome 11p15.5 BWS methylation-specific MLPA  
Beckwith-Wiedemann syndrome CDKN1C BWS sequencing analysis  
beta thalassemia HBB hemoglobinopathy sequencing analysis, MLPA  
biotinidase deficiency BTD   sequencing analysis  
biotin-responsive basal ganglia disease SLC19A3   sequencing analysis  
Birt-Hogg-Dube syndrome FLCN Hornstein-Knickenberg syndrome, Fibrofolliculomas with Trichodiscomas and Acrochordons, BHD syndrome sequencing analysis  
Bloom syndrome BLM/RECQL3   sequencing analysis  
C
        
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy NOTCH3 CADASIL sequencing analysis  
Charcot-Marie-Tooth disease type 1A PMP22 CMT1A MLPA, sequencing analysis  
CINCA syndrome (CIAS1/NLRP3) NLRP3   sequencing analysis  
Cohen syndrome VPS13B   sequencing analysis, MLPA
congenital adrenal hyperplasia CYP21A2 AGS, CAH sequencing analysis, MLPA
cystic fibrosis CFTR mucoviscidosis sequencing analysis, MLPA
D
        
deafness GJB2 Connexin 26, Cx26 sequencing analysis, MLPA  
DiGeorge syndrome 22q11.2 CATCH22, Shprintzen syndrome MLPA  
dihydropyrimidine dehydrogenase deficiency DPYD DPD fragment analysis  
Dravet syndrome SCN1A SMEI sequencing analysis, MLPA  
dystonia, dopa-responsive GCH1 Segawa syndrome, DYT5; sequencing analysis, MLPA  
dystonia, dopa-responsive TH Segawa syndrome sequencing analysis, MLPA  
E
        
episodic ataxia type 2 CACNA1A   sequencing analysis  
F
        
facioscapulohumeral muscular dystrophy* DUX4/DUX4L1 FSHD fragment analysis  10ml EDTA blood
familial Mediterranean fever MEFV FMF sequencing analysis
Fragile X syndrome FMR1 FraX, POF, FXTAS fragment analysis  
Friedreich ataxia* FXN   fragment analysis  
frontotemporal dementia, ALS* c9orf72   fragment analysis  
fructose intolerance ALDOB   sequencing analysis  
G
        
glucose-6-phosphate dehydrogenase deficiency G6PD   sequencing analysis  
GLUT1 deficiency SLC2A1   sequencing analysis, MLPA  
growth hormone deficiency GH1   sequencing analysis, MLPA
H
        
hereditary neuropathy with liability to pressure palsies PMP22 HNPP MLPA, sequencing analysis  
hereditary pancreatitis PRSS1   sequencing analysis  
hereditary pancreatitis SPINK1   sequencing analysis  
hereditary pancreatitis CFTR   sequencing analysis  
hyper-IgD syndrome MVK   sequencing analysis  
I
        
IgVH mutation status* IgVH immunoglobulin heavy-chain variable-region sequencing analysis  
infertility (CBAVD) CFTR CAVD sequencing analysis
L
        
Lesch-Nyhan syndrome HPRT1 Kelley-Seegmiller syndrome sequencing analysis, MLPA  
leukemia (BCR-ABL1), qualitative and quantitative BCR-ABL1, t(9;22)(q34;11) ALL, AML, Philadelphia qPCR, fragment analysis  
leukemia, acute myeloid (FLT3-ITD) FLT3-ITD Internal tandem duplication sequencing analysis  
leukemia, acute promyelocytic (PML-RARA), qualitative and quantitative PML-RARA, t(15;17)(q22;q21) PML-RARA, t(15;17); AML M3, APL qPCR, fragment analysis  
leukemia, chronic myeloid (ABL1) ABL1   sequencing analysis  
leukemia and lymphoma (TP53) TP53   sequencing analysis  
M
        
McCune-Albright syndrome GNAS   sequencing analysis  
Morbus Fabry GLA   sequencing analysis, MLPA  
Morbus Gaucher* GBA   sequencing analysis  
Morbus Meulengracht UGT1A1 Gilbert syndrome sequencing analysis  
Morbus Wilson ATP7B   sequencing analysis, MLPA  
MTHFR deficiency MTHFR   sequencing analysis  
muscular dystrophy Duchenne/Becker DMD DMD, BMD MLPA, sequencing analysis  
myotonic dystrophy type 1* DMPK DM1, Curschmann-Steinert syndrome fragment analysis 10ml EDTA blood
myotonic dystrophy type 2* CNBP DM2, PROMM fragment analysis 10ml EDTA blood
N
        
neoplasm, myeloproliferative (CALR) CALR   sequencing analysis  
neoplasm, myeloproliferative (JAK2) JAK2   sequencing analysis  
neoplasm, myeloproliferative (MPL) MPL   sequencing analysis  
Nudix Hydrolase (NUDT15) genotyping NUDT15   sequencing analysis
O
        
Ondine syndrome PHOX2B CCHS fragment analysis, sequencing analysis
P
Pelizaeus-Merzbacher disease PLP1   MLPA, sequencing analysis  
Peutz-Jeghers syndrome STK11 Polyposis, hamartomatous intestinal, polyps-and-spots syndrome sequencing analysis, MLPA
plasminogen activator inhibitor-1 deficiency PAI1 SERPINE1 sequencing analysis  
Platelet disorder, familial, with associated myeloid malignancy (FDP/AML) RUNX1   sequencing analysis, MLPA  
Pleuropulmonary blastoma DICER1   sequencing analysis  
Prader-Willi syndrome SNRPN gene region (15q11-q13) PWS methylation-specific MLPA  
primary hyperoxaluria AGXT   sequencing analysis, MLPA  
pyridoxine-dependent epilepsy ALDH7A1   sequencing analysis  
R
        
renal glucosuria SLC5A2 Diabetes renalis; Diabetes innocens / innocuu sequencing analysis  
Retinitis pigmentosa 3 RPGR   sequencing analysis  
Retinitis pigmentosa RPE65 LCA, RP sequencing analysis, MLPA  
retinoblastoma RB1   sequencing analysis, MLPA
S
        
SHOX deficiency SHOX Léri-Weill syndrome MLPA, sequencing analysis  
sickle cell anemia HBB (c.20A>T) HbS sequencing analysis  
Silver-Russell syndrome 7p12.1, 7q32.2 SRS methylation-specific MLPA  
Silver-Russell syndrome 11p15.5 SRS methylation-specific MLPA  
small fiber neuropathy SCN9A   sequencing analysis  
spinal muscular atrophy SMN1 SMA MLPA  
spinocerebellar ataxia 1, 2, 3, 6, 7, 17 ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP SCA1, SCA2, SCA3, SCA6, SCA7, SCA17 fragment analysis  
T
        
T-cell receptor gamma rearrangement* TCRG TCR gamma sequencing analysis  
thiopurine methyltransferase deficiency TPMT   sequencing analysis  
thrombotic thrombocytopenic purpura ADAMTS13 TTP sequencing analysis  
transthyretin-related amyloidosis TTR TTR-FAP sequencing analysis, sequencing analysis  
TRAPS (TNFRSF1A) TNFRSF1A familial Hibernian fever sequencing analysis  
U
        
uniparental disomy 7 chromosome 7 Silver-Russell syndrome fragment analysis  in addition to the index, material of both parents is also required for the analysis
uniparental disomy 11 chromosome 11 Beckwith-Wiedemann syndrome, Silver-Russell syndrome fragment analysis in addition to the index, material of both parents is also required for the analysis
uniparental disomy 14 chromosome 14 Temple syndrome, Kagami-Ogata syndrome fragment analysis in addition to the index, material of both parents is also required for the analysis
uniparental disomy 15 chromosome 15 Prader-Willi syndrome, Angelman syndrome fragment analysis in addition to the index, material of both parents is also required for the analysis
V
        
von Hippel-Lindau syndrome VHL   sequencing analysis, MLPA  
von Willebrand disease VWF   sequencing analysis, MLPA  
W
        
Wiskott-Aldrich syndrome WAS   sequencing analysis  
X
        
X-linked adrenoleukodystrophy ABCD1   sequencing analysis  

*carried out in collaborating laboratories