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

Single gene analyses

disorder/disease

gene/chromosomal region

synonym

method 1

method 2

material (if different from 3-5ml EDTA blood or 1-5 µg DNA)

analysis is performed in a reference laboratory

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   x
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 x
familial Mediterranean fever MEFV FMF sequencing analysis      
Fragile X syndrome FMR1 FraX, POF, FXTAS fragment analysis      
Friedreich ataxia FXN   fragment analysis     x
frontotemporal dementia, ALS c9orf72   fragment analysis     x
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     x
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     x
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 x
myotonic dystrophy type 2 CNBP DM2, PROMM fragment analysis   10ml EDTA blood x

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     x
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