Single Gene and Segregation Analysis
For the focused analysis of single genes or familial variants
CeGaT offers comprehensive laboratory diagnostics expertise, with more than 700 different single gene sequence analyses available. Furthermore, for many of these genes (> 350) we can also carry out further analysis using MLPA or quantitative PCR to detect deletions or duplications.
As more and more diseases are able to be diagnosed, we are constantly expanding the range of diagnostics we offer.
We are happy to establish new analyses for you.
Are you insured in Germany? Our colleagues at the Zentrum für Humangenetik Tübingen will gladly support you!
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What We Offer with the Single Gene and Segregation Analysis
Extensive
Diagnostics
> 700 different single gene sequence analyses
Deletions & Duplications
Using MLPA or quantitative PCR in > 350 genes
High
Flexibility
We are happy to establish new examinations for you
Comprehensive Medical Report
Created by our interdisciplinary team of experts
Our Promise to You
Fast Turnaround Time
Less than 4 weeks after sample receipt
Safety
Highest confidentiality and quality standards
Reliability
Reliable support throughout all steps
Comprehensibility
Clearly prepared medical report
Methods
Sanger Sequencing
Sanger sequencing is particularly useful for small-scale applications, such as single gene testing. After amplification of the DNA coding segments and adjacent regions via PCR, sequencing is performed using a 96-capillary 3730xl DNA Analyzer from Applied Biosystems.
Analysis of Deletions and Duplications
For the detection of deletions and duplications we use MLPA or quantitative PCR. For MLPAs, the kits from MRC HOLLAND are used. Quantitative PCR is carried out on the Quant Studio 12K Flex Real-Time PCR System from Applied Biosystems.
Fragment Length Analysis
Another service we offer is fragment length analysis by capillary electrophoresis. This method is used for disorders such as triplet repeat diseases. The gene regions of interest are amplified by unique primers, and the number of triplet repeats can be determined by analyzing the fragment lengths of the resulting PCR products. Fragment length is determined using the 96-capillary 3730xl DNA Analyzer by Applied Biosystems.
Sample Report
General Information
Material
- 1-2 ml EDTA blood (recommended sample type) or
- 1-2 µg genomic DNA
- Analysis of other tissues is also possible
- Order Form with declaration of consent
- Payment agreement
Here you can find more information on how to ship your sample safely.
Turnaround Time
- Turnaround Time: less than 4 Weeks
Costs
For Single Gene Testing the costs are dependent on the size or the number of exons of the gene. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.
Diagnostic Process

Counseling & Test Selection

Sampling & Shipment

Sample Analysis

Medical Report & Counseling
Gene | Disease | id | topic | omim | Step 1 | duration | exons | Step 2 | Step 3 | min_size | Kilobases |
---|---|---|---|---|---|---|---|---|---|---|---|
15q11-13 | Prader-Willi Syndrome | Deletion and duplication analysis | 26.700.000 | ||||||||
15q11-13 | Angelman Syndrome | Deletion and duplication analysis | 26.700.000 | ||||||||
AAAS | Achalasia-addisonianism-alacrimia syndrome | Sequencing of all coding exons of the gene | 1.641 | ||||||||
ABCA3 | Surfactant metabolism dysfunction, pulmonary, 3 | Sequencing of all coding exons of the gene | 5.115 | ||||||||
ABCA3 | Pulmonary surfactant metabolism dysfunction type 3 (ABCA3 deficiency) | Sequencing of all coding exons of the gene | 5.115 | ||||||||
ABCA4 | Autosomal Recessive Retinitis Pigmentosa | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 6.822 | |||||||
ABCA4 | Stargardt Disease | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 6.822 | |||||||
ABCA4 | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 6.822 | |||||||
ABCA4 | Age-Dependent Macula Degeneration | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 6.822 | |||||||
ABCB4 | Cholestasis, intrahepatic, of pregnancy, 3 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 3.861 | |||||||
ABCB4 | Cholestasis, progressive familial intrahepatic 3 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 3.861 | |||||||
ABCB4 | Gallbladder disease 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 3.861 | |||||||
ABCD1 | Adrenoleukodystrophy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.238 | |||||||
ABHD12 | Polyneuropathy, Deafness, Ataxia, Retinitis Pigmentosa and Cataract | Sequencing of all coding exons of the gene | 1.215 | ||||||||
ABHD5 | Chanarin-Dorfman syndrome | Sequencing of all coding exons of the gene | 1.050 | ||||||||
ACADS | Short Chain Acyl-CoA Dehydrogenase Deficiency | Sequencing of all coding exons of the gene | 1.239 | ||||||||
ACTA1 | Congenital Fiber-Type Disproportion Myopathy | Sequencing of all coding exons of the gene | 1.134 | ||||||||
ACTA1 | Nemaline Myopathy | Sequencing of all coding exons of the gene | 1.134 | ||||||||
ACTG2 | Visceral myopathy | Sequencing of all coding exons of the gene | 1.131 | ||||||||
ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.512 | |||||||
ADAR | Aicardi-Goutieres syndrome 6 | Sequencing of all coding exons of the gene | 3.681 | ||||||||
ADAR | Dyschromatosis symmetrica hereditaria | Sequencing of all coding exons of the gene | 3.681 | ||||||||
ADCY5 | Dyskinesia, familial, with facial myokymia | Sequencing of all coding exons of the gene | 3.786 | ||||||||
ADSL | Adenylosuccinate Lyase Deficiency | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.455 | |||||||
AGA | Aspartylglycosaminuria | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.041 | |||||||
AGL | Glycogen Storage Disease Type III | Sequencing of all coding exons of the gene | 4.599 | ||||||||
AGXT | Hyperoxaluria, Primary, Type 1 | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 1.179 | ||||||||
AHI1 | Joubert Syndrome | Sequencing of all coding exons of the gene | 3.591 | ||||||||
AIPL1 | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.155 | |||||||
AIPL1 | Leber congenital amaurosis 4 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.155 | |||||||
AIPL1 | Retinitis pigmentosa, juvenile | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.155 | |||||||
AKT3 | Hemimegalencephaly | Sequencing of all coding exons of the gene | 1.440 | ||||||||
ALDH4A1 | Hyperprolinemia, Type II | Sequencing of all coding exons of the gene | 1.692 | ||||||||
ALDH5A1 | Succinic semialdehyde dehydrogenase deficiency | Sequencing of all coding exons of the gene | 1.647 | ||||||||
ALDH7A1 | Pyridoxine-Dependent Epilepsy | Sequencing of all coding exons of the gene | 1.620 | ||||||||
ALDOB | Fructose intolerance | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.095 | |||||||
ALG12 | CDG-Syndrome 1G | Sequencing of all coding exons of the gene | 1.467 | ||||||||
ALG2 | CDG-Syndrome 1I | Sequencing of all coding exons of the gene | 1.251 | ||||||||
ALG3 | CDG-Syndrome 1D | Sequencing of all coding exons of the gene | 1.317 | ||||||||
ALG6 | CDG-Syndrom 1C | Sequencing of all coding exons of the gene | 1.524 | ||||||||
ALG8 | CDG Syndrome 1H | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.581 | |||||||
ALG9 | CDG-Syndrome 1L | Sequencing of all coding exons of the gene | 1.857 | ||||||||
ALMS1 | Alstrom Syndrome | Sequencing of all coding exons of the gene | 12.504 | ||||||||
ALPL | Hypophosphatasia, adult | Sequencing of all coding exons of the gene | 1.575 | ||||||||
ALPL | Hypophosphatasia, childhood | Sequencing of all coding exons of the gene | 1.575 | ||||||||
ALPL | Hypophosphatasia, infantile | Sequencing of all coding exons of the gene | 1.575 | ||||||||
ALPL | Odontohypophosphatasia | Sequencing of all coding exons of the gene | 1.575 | ||||||||
ALS2 | Cardiac Diseases | Sequencing of all coding exons of the gene | 4.974 | ||||||||
AMACR | Alpha-Methylacyl-CoA Racemase Deficiency | Sequencing of all coding exons of the gene | 1.185 | ||||||||
AMPD1 | Myoadenylate Deaminase Deficiency | Sequencing of all coding exons of the gene | 2.343 | ||||||||
AMT | Glycine Encephalopathy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.212 | |||||||
ANG | Cardiac Diseases | Sequencing of all coding exons of the gene | 444 | ||||||||
ANO10 | Spinocerebellar Ataxia, autosomal-recessive 10, SCAR10 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.983 | |||||||
ANO3 | Dystonia 24 | Sequencing of all coding exons of the gene | 2.946 | ||||||||
AP2S1 | Hypocalciuric hypercalcemia, familial, type III | Sequencing of all coding exons of the gene | 429 | ||||||||
APOA1 | Amyloidosis | Sequencing of all coding exons of the gene | 804 | ||||||||
APOA1 | ApoA-I deficiency | Sequencing of all coding exons of the gene | 804 | ||||||||
APOA1 | Amyloidosis, 3 or more types | Sequencing of all coding exons of the gene | 804 | ||||||||
APOA2 | Apolipoprotein A-II deficiency | Sequencing of all coding exons of the gene | 303 | ||||||||
APOA5 | Hyperchylomicronemia, late-onset | Sequencing of all coding exons of the gene | 1.101 | ||||||||
APP | Alzheimer Dementia | Sequencing of hotspots [Exon 16,Exon 17];Deletion and duplication analysis | Deletion and duplication analysis | 2.313 | |||||||
APTX | Ataxia with Oculomotor Apraxia 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.029 | |||||||
AR | Androgen Insensitivity Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Fragment length analysis | 2.763 | ||||||
AR | Spinal and Bulbar Muscular Atrophy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Fragment length analysis | 2.763 | ||||||
ARFGEF2 | Periventricular nodular Heterotopia | Sequencing of all coding exons of the gene | 5.358 | ||||||||
ARHGEF9 | Hyperekplexia | Sequencing of all coding exons of the gene | 1.551 | ||||||||
ARSA | Metachromatic Leukodystrophy | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.530 | |||||||
ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.602 | |||||||
ARSI | Spastic Paraplegia Type 66 | Sequencing of all coding exons of the gene | 1.710 | ||||||||
ARX | Agenesis of Corpus Callosum with Abnormal Genitalia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.689 | |||||||
ARX | Partington X-Linked Mental Retardation Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.689 | |||||||
ARX | West-Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.689 | |||||||
ARX | X-Linked Lissencephaly with Ambiguous Genitalia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.689 | |||||||
ARX | X-Linked Lissencephaly with Ambiguous Genitalia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.689 | |||||||
ASAH1 | Farber lipogranulomatosis | Sequencing of all coding exons of the gene | 1.236 | ||||||||
ASAH1 | Spinal muscular atrophy with progressive myoclonic epilepsy | Sequencing of all coding exons of the gene | 1.236 | ||||||||
ASPM | Primary Autosomal Recessive Microcephaly Type 5 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 10.434 | |||||||
ASXL1 | Bohring-Opitz Syndrome | Sequencing of all coding exons of the gene | 4.626 | ||||||||
ATF6 | Achromatopsia 7 | Sequencing of all coding exons of the gene | 2.013 | ||||||||
ATL1 | Neuropathy, hereditary sensory, type ID | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.677 | |||||||
ATL1 | Spastic paraplegia 3A, autosomal dominant | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.677 | |||||||
ATM | Ataxia Teleangiectatica (AT) | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 9.171 | |||||||
ATP13A2 | Kufor-Rakeb Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 3.543 | |||||||
ATP1A2 | Familial hemiplegic Migraine Type 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 3.063 | |||||||
ATP1A3 | Rapid Onset Dystonia with Parkinsonism | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 3.081 | |||||||
ATP2A1 | Brody myopathy | Sequencing of all coding exons of the gene | 3.006 | ||||||||
ATP2A2 | Darier-White Disease | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 3.129 | |||||||
ATP2C1 | Hailey-Hailey disease | Sequencing of all coding exons of the gene | 2.922 | ||||||||
ATP6AP2 | Mental retardation, X-linked, with epilepsy | Sequencing of all coding exons of the gene | 1.053 | ||||||||
ATP6V0A4 | Renal tubular acidosis, distal, autosomal recessive | Sequencing of all coding exons of the gene | 2.523 | ||||||||
ATP6V1B1 | Renal tubular acidosis with deafness | Sequencing of all coding exons of the gene | 1.542 | ||||||||
ATP7A | ATP7A-Related Copper Transport Disorders | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 4.503 | ||||||||
ATP7A | Menkes Disease | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 4.503 | ||||||||
ATP7B | Wilson Disease | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 4.398 | |||||||
ATP8A2 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | Sequencing of all coding exons of the gene | 3.567 | ||||||||
ATP8B1 | Cholestasis, benign recurrent intrahepatic | Sequencing of all coding exons of the gene | 3.756 | ||||||||
ATP8B1 | Cholestasis, intrahepatic, of pregnancy, 1 | Sequencing of all coding exons of the gene | 3.756 | ||||||||
ATP8B1 | Cholestasis, progressive familial intrahepatic 1 | Sequencing of all coding exons of the gene | 3.756 | ||||||||
ATRX | Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 7.479 | |||||||
ATXN1 | Spinocerebellar Ataxia 1 | Repeat expansion analysis | 2.448 | ||||||||
ATXN2 | Spinocerebellar Ataxia 2 | Repeat expansion analysis | 3.942 | ||||||||
ATXN3 | Machado-Joseph Disease | Repeat expansion analysis | 1.086 | ||||||||
ATXN7 | Spinocerebellar Ataxia 7 | Repeat expansion analysis | 2.838 | ||||||||
B9D1 | Meckel Syndrome | Sequencing of all coding exons of the gene | 774 | ||||||||
B9D2 | Meckel Syndrome | Sequencing of all coding exons of the gene | 528 | ||||||||
BBS1 | Bardet-Biedl Syndrome | Sequencing of all coding exons of the gene | 1.782 | ||||||||
BBS1 | Bardet-Biedl Syndrome | Sequencing of all coding exons of the gene | 1.782 | ||||||||
BBS2 | Bardet Biedl Syndrome | Sequencing of all coding exons of the gene | 2.166 | ||||||||
BBS2 | Bardet Biedl Syndrome | Sequencing of all coding exons of the gene | 2.166 | ||||||||
BCKDHA | Maple Syrup Urine Disease Type 1A | Sequencing of all coding exons of the gene | 1.338 | ||||||||
BCKDHB | Maple Syrup Urine Disease | Sequencing of all coding exons of the gene | 1.179 | ||||||||
BEST1 | Autosomal Dominant Retinitis Pigmentosa | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.815 | |||||||
BEST1 | Autosomal Recessive Retinitis Pigmentosa | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 1.815 | |||||||
BFSP2 | Cataract, autosomal dominant | Sequencing of all coding exons of the gene | 1.248 | ||||||||
BICD2 | Spinal muscular atrophy | Sequencing of all coding exons of the gene | 2.568 | ||||||||
BSCL2 | Neuropathy, distal hereditary motor, type V | Sequencing of all coding exons of the gene | 1.389 | ||||||||
BSCL2 | Silver spastic paraplegia syndrome | Sequencing of all coding exons of the gene | 1.389 | ||||||||
BSCL2 | Lipodystrophy, congenital generalized, type 2 | Sequencing of all coding exons of the gene | 1.389 | ||||||||
BTD | Biotinidase deficiency | Sequencing of all coding exons of the gene | 1.638 | ||||||||
C10orf11 | Albinism, oculocutaneous, type VII | Sequencing of all coding exons of the gene | 597 | ||||||||
C12orf65 | Combined Oxidative Phosphorylation Deficiency 7 | Sequencing of all coding exons of the gene | 501 | ||||||||
C1QTNF5 | Late-Onset Retinal Degeneration | Sequencing of all coding exons of the gene | 732 | ||||||||
C9orf72 | Cardiac Diseases | Repeat expansion analysis | 1.446 | ||||||||
CABP4 | Congenital Stationary Night-Blindness | Sequencing of all coding exons of the gene | 828 | ||||||||
CACNA1A | Episodic Ataxia - Type 2 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.521 | ||||||
CACNA1A | Paroxysmal Familial Ataxia | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.521 | ||||||
CACNA1A | Spinocerebellar Ataxia Type 6 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.521 | ||||||
CACNA1A | Familial hemiplegic Migraine Type 1 | Sequencing of all coding exons of the gene | Deletion and duplication analysis | Repeat expansion analysis | 7.521 | ||||||
CACNA1B | Dystonia 23 | Sequencing of all coding exons of the gene | 7.020 | ||||||||
CACNA1F | Congenital Stationary Night-Blindness | Sequencing of all coding exons of the gene | 5.934 | ||||||||
CACNA1F | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | 5.934 | ||||||||
CACNA1H | Childhood absence Epilepsy | Sequencing of all coding exons of the gene | 7.062 | ||||||||
CACNA1H | Epilepsy, childhood absence, susceptibility to, 6 | Sequencing of all coding exons of the gene | 7.062 | ||||||||
CACNB4 | Episodic Ataxia - Type 2 | Sequencing of all coding exons of the gene | 1.563 | ||||||||
CACNB4 | Idiopathic generalised Epilepsy (IGE) | Sequencing of all coding exons of the gene | 1.563 | ||||||||
CACNB4 | Juvenile Myoclonus Epilepsy (JME) | Sequencing of all coding exons of the gene | 1.563 | ||||||||
CAPN3 | Limb-Girdle Muscular Dystrophies, autosomal recessive | Sequencing of all coding exons of the gene | Deletion and duplication analysis | 2.466 | |||||||
CASK | FG-Syndrome | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 2.766 | ||||||||
CASK | CASK-Related X-Linked Mental Retardation | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 2.766 | ||||||||
CASR | Autosomal Dominant Hypocalcemia | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 3.267 | ||||||||
CASR | Familial hypocalciuric Hypercalcemia, Type 1 | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 3.267 | ||||||||
CASR | Neonatal Severe Primary Hyperparathyroidism | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 3.267 | ||||||||
CCDC65 | Ciliary dyskinesia, primary, 27 | Sequencing of all coding exons of the gene | 1.455 | ||||||||
CCND2 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | Sequencing of all coding exons of the gene | 870 | ||||||||
CD96 | C syndrome | Sequencing of all coding exons of the gene | 1.758 | ||||||||
CDHR1 | Cone-Rod-Dystrophy | Sequencing of all coding exons of the gene | 2.580 | ||||||||
CDHR1 | Retinitis Pigmentosa | Sequencing of all coding exons of the gene | 2.580 | ||||||||
CDK5RAP2 | Primary Autosomal Recessive Microcephaly Type 3 | Sequencing of all coding exons of the gene | 5.682 | ||||||||
CDKL5 | Rett Syndrome, Congenital Variant | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 3.093 | ||||||||
CDKL5 | Epileptic Encephalopathy, Early Infantile, 2 | Sequencing of all coding exons of the gene;Deletion and duplication analysis | 3.093 | ||||||||
CDKL5 |