What is genetic testing?
Genetic testing identifies changes in one or more chromosomes or genes associated with a hereditary disorder. The results of a genetic test can confirm or exclude a suspected genetic condition or help determine a person’s chance of developing or passing on a disease to one’s children. There are many genetic changes associated with different types of diseases. The specific test will vary based on a person’s individual circumstances.
Who should consider genetic testing?
The indications for genetic testing are diverse. In almost all areas of medicine doctors encounter clinical disorders caused (at least in part) by genetic changes. Genetic testing is indicated when a patient or a member of his/her family is affected by any of the following:
• Eye Diseases
• Vascular and Connective Tissue Disorders
• Heart Diseases
• Brain Malformations / Neuronal Migration Disorders
• Hepatic and Pancreatic Diseases
• Pulmonary Diseases
• Nephrology Endocrinology and Electrolyte Disorders
• Neurogenetic Disorders
• Neuromuscular Disorders
• Mental Retardation and Dysmorphology
• Metabolic Diseases
• Hereditary Cancer Syndromes
• Severe Recessive Childhood Diseases
Next generation panel testing can allow the lab to look at several genes at one time, and results are generally back within three to 12 weeks, depending on the type of testing and the lab.
Gene panel analyses enable cost-efficient and high-quality parallel analysis of anywhere from a small number of disease-related genes to several hundred within a short period of time using next-generation sequencing (NGS. Each panel analyzes both the most and least common disease-related genes with corresponding phenotypes as determined by the published literature. Additionally, copy number variation analysis at single exon resolution for selected genes is performed.
diagnostic gene panels in a number of different clinical disease areas (e.g. hereditary cancer syndromes, neuromuscular disorders, epilepsy, mitochondrial diseases, etc.). These gene panels provide clinicians with high quality diagnostics - both the technical analysis as well as the classification of variants and their interpretation in the individual medical context are guaranteed by our interdisciplinary medical team.
1- Heart Panels- Heart disorders Panel
Methods: Next Generation Sequencing (NGS), Whole exome sequencing (WES) and Sequence analysis of all coding exons and flanking intron-exon boundaries for particular genes.
Sample Requirements EDTA blood
-Arrhythmia- entire panel
Genes tested 26 Genes
-Cardiomyopathies - entire panel
Genes tested 88 Genes
-Catecholaminergic polymorphic ventricular tachycardia (CPVT) / Arrhythmogenic right ventricular dysplasia (ARVD) -Entire panel
Genes tested 13 Genes
-Cardiomyopathy, dilated
Genes tested 36 Genes
-Congenital heart disease, entire panel
Genes tested 47 Genes
-Cardiomyopathy, hypertrophic panel
Genes tested 28 Genes
-Long QT syndrome (LQTS) panel
Genes tested 16 Genes
-Cardiomyopathy, mitochondrial panel
Genes tested 12 Genes
-Cardiomyopathy, infancy panel
Genes tested 23 Genes
-Cardiomyopathy in the context of neuromuscular disease
Genes tested 46 Genes
-Noonan syndrome - PTPN11 gene
Genes tested 1 gene
-RASopathies
Genes tested 19 Genes
- Aortopathy 17 gene panel
Genes tested 17 Genes
- Ehlers-Danlos syndrome
Genes tested 12 Genes
- Comprehensive Cardiovascular NGS Panel
676 conditions for 250 genes tested
2- Mendelian inherited disorders panel
Method
Whole exome sequencing (WES)
This test is inclusive genomewide CNV analysis.The panel contains 3605 genes.
Sample: EDTA blood
3- Breast and ovarian cancer Panel
We looks at 9 genes which cause an increased risk of breast cancer.
- ATM , BRCA1, BRCA2, CDH1, CHEK2, PALB2, PTEN, TP53, STK11
Whole exome sequencing (WES)
This test is inclusive genomewide CNV analysis.The panel contains 3605 genes.
Sample: EDTA blood
4- Prostate cancer Panel
BRCA1, BRCA2, HBOC, HOXB13, MLH1, MSH2, MSH6, PMS2, EPCAM, ATM, CHEK2
Method: EDTA blood or saliva sample and it takes 4 weeks to obtain the results.Prostate Test uses state of the art Next Generation Sequencing (NGS) to examine the code for each of the11 genes in detail. In addition, dosage analysis is used to look for large deletions and duplications in the genes.
5- Craniofacial Anomalies panel
Method
Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. This panel contains 151 genes.
Sample: EDTA blood, Isolated DNA
6- mitochondrial disorders Panel
Method
Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 370 genes.
Sample: EDTA blood, Isolated DNA
7- short stature/skeletal dysplasia Panel
- Endocrine > Short stature
- Skeletal > Skeletal dysplasia
Method
Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 336 genes.
Sample: EDTA blood, Isolated DNA
8- Eye and vision disorders Panel
Vision impairment / blindness > Vision disorders
Method
• Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 415 genes.
Sample: EDTA blood, Isolated DNA
9- Disorders of sex development Panel
Method
• Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 56 genes.
Sample: EDTA blood, Isolated DNA
10- Metabolic disorders
Method
• Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 625 genes.
Sample: EDTA blood, Isolated DNA
11- primary immunodeficiencies Panel
Method
Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 386 genes.
Sample: EDTA blood, Isolated DNA
12- hypogonadotropic hypogonadism (Kallmann) Panel
Method
Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 37 genes.
Sample: EDTA blood, Isolated DNA
13- Renal disorders Panel
Conditions > Renal / Nephrological > Renal disorders (WES)
Method
Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 252 genes.
Sample: EDTA blood, Isolated DNA
14- Hereditary Renal cancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1) Panel
Method
• Sequence analysis of all coding exons and flanking intron-exon boundaries
• Deletion/duplication analysis (MLPA)
Remarks
Deletion/duplication analysis includes the SDH-, VHL, BAP1 and FH gene.
Samples: EDTA blood, FFPE, Isolated DNA
15- Hereditary cancer: Oncogenetics > Hereditary cancer Panel
Method
Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.This panel contains 206 genes.
Sample: EDTA blood, Isolated DNA
16- Infertility, examination of Y-chromosomal microdeletions in AZF region Panel
Method
• Sequence analysis of selected exons and flanking intron-exon boundaries
Sample: EDTA blood, Heparin blood, Isolated DNA
17- Hemostatic/Iron and thrombotic disorders Panel
Method
• Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis. This panel contains 145 genes.
Sample: EDTA blood, Isolated DNA
18- Brain malformations / Neuronal migration disorder - entire panel
Genes tested 269 Genes
Sample: EDTA blood, Isolated DNA
19- Coagulation / Hematology Panel
• Haemophilia includes 3 Gene(s)
• Hereditary spherocytosis includes 5 Gene(s)
• Hermansky-Pudlak syndrome includes 10 Gene(s)
• Congenital disorders of platelet function and thrombocytopenia includes 45 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
20- Comprehensive Testing Panel
Genes testes 1564 Genes
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
21- Exome Sequencing Panel
Clinical Exome Single includes 3963 Gene(s)
Clinical Exome Trio includes 3963 Gene(s)
Whole Exome Single includes 21528 Gene(s)
Whole Exome Trio includes 21528 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
22- Hepatic and Pancreatic Diseases Panel
Alagille syndrome includes 2 Gene(s)
Cholestasis / Parenchymal liver damage includes 61 Gene(s)
Hereditary Pancreatitis includes 5 Gene(s)
Porphyria includes 9 Gene(s)
Progressive familial intrahepatic cholestasis includes 5 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
23- Neurogenetic Disorders Panel
Dementia / Neurodegeneration
• Neuroacanthocytosis includes 5 Gene(s)
• Dementia includes 14 Gene(s)
• Leukodystrophy - comprehensive panel includes 56 Gene(s)
• Leukodystrophy, hypomyelinating - basic diagnostic test includes 12 Gene(s)
• Neurodegeneration with brain iron accumulation (NBIA)
Epilepsy
• Benign familial neonatal / infantile seizures (BFNS/BFIS) includes 5 Gene(s)
• Epileptic encephalopathy - core panel includes 23 Gene(s)
• Familial focal epilepsy includes 9 Gene(s)
• Febrile seizures includes 10 Gene(s)
• Epilepsy and hypomyelination includes 23 Gene(s)
• Progressive myoclonic epilepsy includes 38 Gene(s)
• Encephalopathies (mitochondrial / epileptic) includes 434 Gene(s)
Migraine / Paroxysmal Neurological Disorders
• Dyskinesia, paroxysmal / dystonia includes 6 Gene(s)
• Familial hemiplegic migraine includes 5 Gene(s)
• Hyperekplexia includes 5 Gene(s)
Movement Disorders Panel
• Ataxia teleangiectatica includes 1 Gene(s)
• Ataxia, episodic and phenocopies includes 23 Gene(s)
• Ataxia, autosomal recessive includes 20 Gene(s)
• Ataxia, autosomal recessive - core panel includes 6 Gene(s)
• Ataxia, autosomal recessive - sensory neuropathy includes 2 Gene(s)
• Ataxia, oculomotor apraxia includes 2 Gene(s)
• Ataxia, autosomal recessive - spasticity includes 2 Gene(s)
• Ataxia, comprehensive panel includes 98 Gene(s)
• Chorea, choreiform movement disorders includes 9 Gene(s)
• Movement disorders - comprehensive panel includes 239 Gene(s)
• Dystonia, dyskinesia - comprehensive panel includes 37 Gene(s)
• Dyskinesia, paroxysmal / dystonia includes 6 Gene(s)
• Dystonia, isolated - core panel includes 8 Gene(s)
• Dystonia, myoclonic includes 4 Gene(s)
• Dystonia, parkinsonism and/or DOPA-responsive includes 10 Gene(s)
• Hereditary spastic paraplegia /HSP - core panel includes 11 Gene(s)
• Hereditary spastic paraplegia /HSP includes 97 Gene(s)
• Parkinson includes 13 Gene(s)
• Parkinsonism, autosomal dominant or x-linked includes 5 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
24- Neuromuscular Disorders panel
• Fetal akinesia / Arthrogryposis Multiplex Congenital (AMC)
Fetal akinesia / Arthrogryposis multiplex congenita (AMC) includes 186 Gene(s)
• Malignant Hyperthermia
Malignant hyperthermia susceptibility includes 2 Gene(s)
• Mitochondrial Diseases
Cardiomyopathy, mitochondrial includes 12 Gene(s)
Mitochondrial genome - complete includes 37 Gene(s)
Mitochondrial disorders - comprehensive panel includes 243 Gene(s)
CoQ10 deficiency includes 14 Gene(s)
Encephalopathies (mitochondrial / Leigh syndrome) includes 35 Gene(s)
Encephalopathies (mitochondrial / epileptic) includes 434 Gene(s)
Mitochondrial hepato(enzephalomyelo)pathy and phenocopies includes 21 Gene(s)
Mitochondrial myopathy includes 36 Gene(s)
Chronic progressive external ophthalmoplegia (CPEO) and phenocopies includes 35 Gene(s)
• Muscle Diseases
FSHD (FSHD1 phenocopies and FSHD2) includes 7 Gene(s)
Congenital myasthenic syndrome (CMS) includes 29 Gene(s)
Muscle weakness (myopathy, muscular dystrophy) - comprehensive panel includes 228 Gene(s)
Duchenne / Becker-Kiener muscular dystrophy includes 1 Gene(s)
Muscular dystrophy, congenital, dystroglycanopathy includes 14 Gene(s)
Muscular dystrophy, Emery-Dreifuss includes 6 Gene(s)
Muscle weakness, early-onset includes 128 Gene(s)
Muscular dystrophy, limb-girdle - core panel includes 9 Gene(s)
Muscular dystrophy, congenital, collagen-associated (Bethlem/Ullrich and phenocopies) includes 7 Gene(s)
Muscular dystrophy, congenital includes 29 Gene(s)
Muscle weakness, adult-onset includes 105 Gene(s)
• Myotonia
Myotonia includes 9 Gene(s)
Schwartz-Jampel syndrome, type 1 includes 1 Gene(s)
• Neuropathy / Motor Neuron Diseases
Amyotrophic lateral sclerosis (ALS) and phenocopies includes 30 Gene(s)
Neuropathy, motor and sensory - CMT1, CMT2, dHMN includes 118 Gene(s)
Neuropathy - comprehensive panel includes 269 Gene(s)
Neuropathy, motor / dHMN includes 21 Gene(s)
Neuropathy - early childhood-onset includes 22 Gene(s)
Neuropathy, sodium channel-associated includes 3 Gene(s)
Neuropathy, sensory (and autonomic) - HSN/HSAN includes 25 Gene(s)
Differential diagnoses SMA, adulthood includes 9 Gene(s)
Neuropathy, motor /proximal / spinal muscular atrophy includes 25 Gene(s)
• Periodic Palsy
Periodic Paralysis includes 5 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
25- Pulmonary Diseases panel
Respiratory disease - core panel includes 13 Gene(s)
Pulmonary arterial hypertension (PAH) includes 10 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
26- Reproductive Genetics panel
Hypogonadotropic hypogonadism includes 10 Gene(s)
Oligo-/Azoospermia includes 7 Gene(s)
Premature ovarian insufficiency includes 13 Gene(s)
Fertility includes 33 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
27- Vascular and Connective Tissue Disorders Panel
Vascular and connective tissue diseases - entire panel includes 68 Gene(s)
Ehlers-Danlos Syndrome (EDS) includes 15 Gene(s)
Ehlers-Danlos syndrome (EDS), classic includes 3 Gene(s)
Ehlers-Danlos syndrome (EDS), vascular includes 1 Gene(s)
Marfan Syndrome includes 1 Gene(s)
Early-onset Stroke / Stroke-Like Episodes includes 22 Gene(s)
Collagen Type IV-Associated Disorders and Phenocopies includes 5 Gene(s)
Marfan syndrome - basic diagnostics includes 4 Gene(s)
Thoracic Aortic Aneurysms and Aortic Dissections (TAAD) includes 19 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
28- Additional Testing Panel
Autoinflammation includes 19 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
29- Mental Retardation and Dysmorphology Panel
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
• Angelman/Rett-like phenotypes includes 23 Gene(s)
• Cohesinopathies (Cornelia de Lange syndrome) includes 7 Gene(s)
• Syndromal diseases - entire panel includes 353 Gene(s)
• Cornelia de Lange syndrome includes 5 Gene(s)
• Coffin-Siris and Nicolaides-Baraitser syndrome (CSS, NCBRS) includes 7 Gene(s)
• Dyskeratosis congenita includes 11 Gene(s)
• Syndromes with limb defects includes 25 Gene(s)
• Asymmetric overgrowth syndromes / phakomatoses includes 20 Gene(s)
• Kabuki syndrome includes 2 Gene(s)
• Syndromal craniosynosthosis includes 7 Gene(s)
• Macrocephaly includes 44 Gene(s)
• Metabolic dysmorphic syndromes includes 44 Gene(s)
• Neurofibromatosis includes 1 Gene(s)
• Noonan syndrome - PTPN11 gene includes 1 Gene(s)
• Osteogenesis imperfecta, dominant includes 6 Gene(s)
• Osteogenesis imperfecta, recessive includes 11 Gene(s)
• RASopathies includes 19 Gene(s)
• Sotos and additional overgrowth syndromes includes 5 Gene(s)
• X-Linked mental retardation includes 115 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
30- Nephrology, Endocrinology, and Electrolytes Panel
• Diabetes, neonatal includes 5 Gene(s)
• Autosomal dominant tubulointerstitial kidney disease (ADTKD) includes 4 Gene(s)
• Alport syndrome / Thin basement membrane nephropathy includes 4 Gene(s)
• Branchiootorenal / Brachiootic syndrome (BOR and BOS) includes 3 Gene(s)
• Congenital anomalies of the kidney and urinary tract (CAKUT) includes 30 Gene(s)
• Renal disease and electrolytes - entire panel (DxOme Not Available) includes 116 Gene(s)
• Maturity-onset diabetes of the young (MODY) includes 15 Gene(s)
• Urethra malformations includes 9 Gene(s)
• Fraser syndrome includes 3 Gene(s)
• Focal segmental glomerulosclerosis (FSGS) includes 13 Gene(s)
• Focal segmental glomerulosclerosis (FSGS) - core panel includes 8 Gene(s)
• Hyperkalemia / Pseudohypoaldosteronism includes 4 Gene(s)
• Hypokalemia and Gitelman / Bartter syndrome includes 8 Gene(s)
• Hypoplasia of the kidney and renal agenesis includes 8 Gene(s)
• Nephrotic syndrome includes 26 Gene(s)
• Nephrotic syndrome - core panel includes 5 Gene(s)
• Polycystic liver disease includes 6 Gene(s)
• Polycystic kidney disease includes 17 Gene(s)
• Polycystic kidney disease - core panel includes 3 Gene(s)
• Renal calculi includes 11 Gene(s)
• Renal tubular dysgenesis includes 4 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
31- Carrier Screening Panel
• Severe Recessive Childhood Diseases - Single includes 640 Gene(s)
• Severe Recessive Childhood Diseases - Couple includes 640 Gene(s)
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
32- skin disorders Panel
This test is inclusive panelwide CNV analysis. This panel contains 611 genes.
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
33- Intellectual disability Panel
This test is inclusive genomewide CNV analysis.The panel contains 1158 genes.
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
34- Primary immuno¬deficiencies Panel
This test is inclusive genomewide CNV analysis.The panel contains 386 genes.
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
35- Hearing impairment Panel
This test is inclusive genomewide CNV analysis.The panel contains 173 genes.
Method: Next Generation Sequencing (NGS)
Sample: EDTA blood
