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!

Single Gene Overview

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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

You can find the entire diagnostic process here

Counseling & Test Selection

Sampling & Shipment

Sample Analysis

Medical Report & Counseling

Gene	Disease	Step 1	Step 2	Step 3	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