Laboratory for Molecular Diagnostics

Personnel

Director: Mato Nagel, MD, Medical Director
Phone: +49 3576287922
Fax: +49 3576287944
Email: nagel@moldiag.de
Mandy Benke, Lab Director
Phone: +49 3576215522
Fax: +49 3576215524
Email: labor@moldiag.de

Conditions and tests

445 conditions/phenotypes with 468 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
Abetalipoproteinaemia1 test
ABri amyloidosis1 test
Achondroplasia1 test
ACTH-independent macronodular adrenal hyperplasia 21 test
Adenine phosphoribosyltransferase deficiency1 test
Age-related macular degeneration1 test
Alport syndrome1 test
Alstrom syndrome1 test
Alzheimer disease 21 test
Alzheimer disease 41 test
Analbuminemia1 test
Aniridia 11 test
Apolipoprotein c-III deficiency1 test
Apparent mineralocorticoid excess1 test
Argininosuccinate lyase deficiency1 test
Arterial calcification, generalized, of infancy, 21 test
Arthrogryposis, renal dysfunction, and cholestasis 11 test
Arthrogryposis, renal dysfunction, and cholestasis 21 test
Ateleiotic dwarfism2 tests
Atrial fibrillation, familial, 71 test
Atypical hemolytic-uremic syndrome1 test
Atypical hemolytic-uremic syndrome with B factor anomaly1 test
Atypical hemolytic-uremic syndrome with C3 anomaly1 test
Atypical hemolytic-uremic syndrome with I factor anomaly2 tests
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
Autoinflammatory syndrome, familial, Behcet-like1 test
Autosomal dominant Alport syndrome1 test
Autosomal dominant distal renal tubular acidosis1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant hypophosphatemic rickets1 test
Autosomal dominant isolated somatotropin deficiency1 test
Autosomal dominant nonsyndromic hearing loss 171 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant optic atrophy classic form1 test
Autosomal dominant osteopetrosis 11 test
Autosomal dominant pseudohypoaldosteronism type 11 test
Autosomal recessive Alport syndrome1 test
Autosomal recessive distal renal tubular acidosis1 test
Autosomal recessive hypophosphatemic bone disease3 tests
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive polycystic kidney disease2 tests
Autosomal recessive proximal renal tubular acidosis1 test
Autosomal recessive pseudohypoaldosteronism type 11 test
Bardet-Biedl syndrome1 test
Bardet-Biedl syndrome 11 test
Bardet-Biedl syndrome 101 test
Bardet-Biedl syndrome 111 test
Bardet-Biedl syndrome 121 test
Bardet-Biedl syndrome 131 test
Bardet-Biedl syndrome 141 test
Bardet-Biedl syndrome 151 test
Bardet-Biedl syndrome 161 test
Bardet-Biedl syndrome 171 test
Bardet-Biedl syndrome 181 test
Bardet-Biedl syndrome 191 test
Bardet-Biedl syndrome 21 test
Bardet-Biedl syndrome 31 test
Bardet-Biedl syndrome 41 test
Bardet-Biedl syndrome 51 test
Bardet-Biedl syndrome 61 test
Bardet-Biedl syndrome 71 test
Bardet-Biedl syndrome 81 test
Bardet-Biedl syndrome 91 test
Bartter disease type 11 test
Bartter disease type 21 test
Bartter disease type 31 test
Bartter disease type 4A1 test
Bartter disease type 4B1 test
Bernard-Soulier syndrome type C1 test
Bernard-Soulier syndrome, type A1 test
Bernard-Soulier syndrome, type B1 test
BLOOD GROUP--FROESE1 test
Brachydactyly-arterial hypertension syndrome1 test
Brain small vessel disease 1 with or without ocular anomalies2 tests
Branchiootic syndrome 31 test
Branchiootorenal syndrome 11 test
Branchiootorenal syndrome 21 test
Bronchiectasis with or without elevated sweat chloride 12 tests
Bronchiectasis with or without elevated sweat chloride 21 test
Bronchiectasis with or without elevated sweat chloride 31 test
Brunner syndrome1 test
C1Q deficiency1 test
Capillary infantile hemangioma1 test
Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
Caroli disease1 test
Carotid intimal medial thickness 11 test
Cataract with late-onset corneal dystrophy1 test
Cerebral amyloid angiopathy, APP-related1 test
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
Chondrodysplasia Blomstrand type1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
CIDEC-related familial partial lipodystrophy1 test
Citrin deficiency1 test
Citrullinemia type I1 test
Citrullinemia type II1 test
Coenzyme Q10 deficiency, primary, 11 test
Coenzyme Q10 deficiency, primary, 31 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Complement component 2 deficiency1 test
Complement component 3 deficiency1 test
Complement component 4a deficiency1 test
Complement component 5 deficiency1 test
Complement component 9 deficiency1 test
Congenital adrenal hypoplasia, X-linked1 test
Congenital afibrinogenemia1 test
Congenital anomalies of kidney and urinary tract 11 test
Congenital central hypoventilation1 test
Congenital generalized lipodystrophy type 11 test
Congenital generalized lipodystrophy type 21 test
Congenital glucose-galactose malabsorption1 test
Congenital isolated adrenocorticotropic hormone deficiency1 test
Congenital lactase deficiency1 test
Congenital muscular dystrophy1 test
Corticosterone 18-monooxygenase deficiency1 test
Cystinuria1 test
Dalmatian hypouricemia1 test
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome1 test
Deficiency of ferroxidase1 test
Deficiency of steroid 11-beta-monooxygenase1 test
Deficiency of steroid 17-alpha-monooxygenase1 test
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
Dent disease1 test
Dent disease type 11 test
Dent disease type 21 test
Diabetes insipidus, nephrogenic, autosomal1 test
Diabetes insipidus, nephrogenic, X-linked1 test
Diabetes insipidus, neurohypophyseal, X-linked1 test
Diabetes mellitus, ketosis-prone1 test
Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension1 test
Diabetes mellitus, transient neonatal, 11 test
Diabetes mellitus, transient neonatal, 21 test
Diabetes mellitus, transient neonatal, 31 test
Disorder of cardiovascular system2 tests
Donnai-Barrow syndrome1 test
Drash syndrome1 test
EAST syndrome1 test
EGFR-related lung cancer1 test
Ehlers-Danlos syndrome, periodontal type 11 test
Ehlers-Danlos syndrome, periodontal type 21 test
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 71 test
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome1 test
Epidermolysis bullosa simplex 7, with nephropathy and deafness1 test
Episodic ataxia type 11 test
Essential fructosuria1 test
Exercise-induced hyperinsulinism1 test
Fabry disease1 test
Factor VII Marburg I Variant Thrombophilia1 test
Factor XII deficiency disease1 test
Factor XIII, A subunit, deficiency of1 test
Factor XIII, b subunit, deficiency of1 test
Familial amyloid neuropathy1 test
Familial apolipoprotein C-II deficiency1 test
Familial chylomicronemia syndrome1 test
Familial cold autoinflammatory syndrome 41 test
Familial hyperaldosteronism type III1 test
Familial hypocalciuric hypercalcemia1 test
Familial hypocalciuric hypercalcemia 11 test
Familial hypocalciuric hypercalcemia 21 test
Familial hypocalciuric hypercalcemia 31 test
Familial hypokalemia-hypomagnesemia2 tests
Familial hypoparathyroidism2 tests
Familial idiopathic steroid-resistant nephrotic syndrome1 test
Familial juvenile hyperuricemic nephropathy type 13 tests
Familial juvenile hyperuricemic nephropathy type 21 test
Familial Mediterranean fever, autosomal dominant1 test
Familial partial lipodystrophy, Dunnigan type1 test
Familial renal glucosuria1 test
Familial steroid-resistant nephrotic syndrome with sensorineural deafness2 tests
Familial type 5 hyperlipoproteinemia1 test
Familial visceral amyloidosis, Ostertag type1 test
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Fanconi renotubular syndrome 31 test
Fanconi-Bickel syndrome1 test
Finnish congenital nephrotic syndrome1 test
Fish-eye disease1 test
Focal segmental glomerulosclerosis 11 test
Focal segmental glomerulosclerosis 21 test
Focal segmental glomerulosclerosis 31 test
Focal segmental glomerulosclerosis 4, susceptibility to1 test
Focal segmental glomerulosclerosis 51 test
Focal segmental glomerulosclerosis 61 test
Foveal hypoplasia 11 test
Frasier syndrome1 test
Fructose uptake deficiency, SLC2A5 related1 test
Fumarase deficiency1 test
Gilbert syndrome1 test
Glanzmann thrombasthenia1 test
Glaucoma 1, open angle, A1 test
Glaucoma 1, open angle, F1 test
Glaucoma 1, open angle, G1 test
Glaucoma 1, open angle, O1 test
Glaucoma 3, primary congenital, D1 test
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset1 test
Glomerulopathy with fibronectin deposits 21 test
Glucocorticoid resistance1 test
Glucocorticoid-remediable aldosteronism1 test
GNE myopathy2 tests
Graves disease1 test
Growth delay due to insulin-like growth factor I resistance1 test
Growth delay due to insulin-like growth factor type 1 deficiency1 test
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant1 test
Hemochromatosis type 11 test
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemochromatosis type 51 test
Hemolytic uremic syndrome, atypical, susceptibility to, 12 tests
Hemorrhage, intracerebral, susceptibility to1 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary angioedema type 11 test
Hereditary antithrombin deficiency1 test
Hereditary cerebral amyloid angiopathy, Icelandic type1 test
Hereditary disease2 tests
Hereditary fructosuria1 test
Hereditary leiomyomatosis and renal cell cancer1 test
Hereditary pancreatitis1 test
Hereditary spherocytosis type 41 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency2 tests
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 51 test
Hyperaldosteronism, familial, type IV1 test
Hyperalphalipoproteinemia 11 test
Hypercalcemia1 test
Hypercalcemia, infantile, 21 test
Hypercholesterolemia, autosomal dominant, 31 test
Hypercholesterolemia, autosomal dominant, type B1 test
Hypercholesterolemia, familial, 11 test
Hypercholesterolemia, familial, 41 test
Hyperglycinuria1 test
Hyperinsulinemic hypoglycemia, familial, 11 test
Hyperinsulinemic hypoglycemia, familial, 21 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperinsulinism due to glucokinase deficiency1 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
Hyperlipidemia, familial combined, LPL related1 test
Hyperlipoproteinemia, type I1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hyperoxaluria1 test
Hyperparathyroidism 11 test
Hypertriglyceridemia 11 test
Hyperuricemic nephropathy, familial juvenile type 41 test
Hypoalphalipoproteinemia, primary, 21 test
Hypoinsulinemic hypoglycemia and body hemihypertrophy1 test
Hypokalemic periodic paralysis, type 11 test
Hypoparathyroidism, deafness, renal disease syndrome1 test
Hypoparathyroidism, familial isolated, 21 test
Hypoparathyroidism-retardation-dysmorphism syndrome1 test
Hypophosphatemic nephrolithiasis/osteoporosis 21 test
Hypophosphatemic rickets with hyperparathyroidism2 tests
Hypophosphatemic rickets, autosomal recessive, 11 test
Hypophosphatemic rickets, autosomal recessive, 21 test
Hypouricemia, renal, 21 test
Idiopathic basal ganglia calcification 11 test
Immunoglobulin-mediated membranoproliferative glomerulonephritis1 test
Infantile hypophosphatasia1 test
Infantile nephronophthisis1 test
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Inflammatory bowel disease 11 test
Inherited susceptibility to asthma1 test
Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
Intellectual disability, autosomal dominant 341 test
Intellectual disability, autosomal dominant 481 test
Intestinal hypomagnesemia 11 test
Irido-corneo-trabecular dysgenesis1 test
Isolated growth hormone deficiency type IB1 test
Isolated growth hormone deficiency, type 41 test
Joubert syndrome 51 test
Joubert syndrome with renal defect1 test
Juvenile amyotrophic lateral sclerosis with dementia1 test
Juvenile nephropathic cystinosis1 test
Karyomegalic interstitial nephritis1 test
L-ferritin deficiency1 test
LAMB2-related infantile-onset nephrotic syndrome1 test
Laron-type isolated somatotropin defect1 test
Lazy leukocyte syndrome1 test
Leber congenital amaurosis 101 test
Leprechaunism syndrome1 test
Leri-Weill dyschondrosteosis1 test
Lesch-Nyhan syndrome1 test
Lethal osteosclerotic bone dysplasia1 test
Leucine-induced hypoglycemia1 test
Liddle syndrome1 test
Liddle syndrome 11 test
LIPE-related familial partial lipodystrophy1 test
Lipoprotein glomerulopathy1 test
LIPOPROTEIN(a) QUANTITATIVE TRAIT LOCUS1 test
Lowe syndrome1 test
Lymphangiomyomatosis1 test
Lymphatic malformation 41 test
Lysinuric protein intolerance1 test
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss5 tests
Maturity onset diabetes mellitus in young1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 131 test
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 92 tests
McCune-Albright syndrome1 test
McKusick-Kaufman syndrome1 test
Meckel syndrome, type 11 test
Meckel syndrome, type 61 test
Meretoja syndrome1 test
Mesangiocapillary glomerulonephritis1 test
Mesangiocapillary glomerulonephritis, type II1 test
Mevalonic aciduria1 test
Microphthalmia with brain and digit anomalies1 test
Microvascular complications of diabetes, susceptibility to, 11 test
MTHFR THERMOLABILE POLYMORPHISM1 test
Multiple endocrine neoplasia, type 11 test
Nail-patella syndrome1 test
Neonatal alloimmune thrombocytopenia1 test
Neonatal diabetes mellitus1 test
Nephroblastoma1 test
Nephrolithiasis diarrhea syndrome1 test
Nephrolithiasis, calcium oxalate1 test
Nephronophthisis 11 test
Nephronophthisis 31 test
Nephronophthisis 41 test
Nephropathic cystinosis1 test
Nephrotic syndrome, type 101 test
Nephrotic syndrome, type 21 test
Nephrotic syndrome, type 31 test
Nephrotic syndrome, type 41 test
Nephrotic syndrome, type 61 test
Nephrotic syndrome, type 81 test
Nephrotic syndrome, type 91 test
Neurohypophyseal diabetes insipidus1 test
Neuropathy, hereditary sensory and autonomic, type 2A1 test
Non-acquired combined pituitary hormone deficiency with spine abnormalities1 test
Nonpersistence of intestinal lactase1 test
Ocular cystinosis1 test
Ornithine aminotransferase deficiency1 test
Ornithine carbamoyltransferase deficiency1 test
Osteoglophonic dysplasia1 test
Osteopathia striata with cranial sclerosis1 test
Osteopetrosis with renal tubular acidosis1 test
Paroxysmal nocturnal hemoglobinuria 12 tests
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency2 tests
Permanent neonatal diabetes mellitus1 test
Pheochromocytoma2 tests
Pierson syndrome1 test
Pituitary hormone deficiency, combined, 11 test
Pituitary hormone deficiency, combined, 21 test
PLIN1-related familial partial lipodystrophy1 test
Polycystic kidney disease 21 test
Polycystic kidney disease 3 with or without polycystic liver disease1 test
Polycystic kidney disease 51 test
Polycystic kidney disease 6 with or without polycystic liver disease1 test
Polycystic kidney disease, adult type1 test
Polyglandular autoimmune syndrome, type 11 test
Porencephaly 21 test
PPARG-related familial partial lipodystrophy1 test
Primary hyperoxaluria, type I1 test
Primary hyperoxaluria, type II1 test
Primary hypomagnesemia2 tests
Primary open angle glaucoma1 test
Progressive myositis ossificans1 test
Progressive osseous heteroplasia1 test
Properdin deficiency, X-linked1 test
Pseudo von Willebrand disease1 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Pseudohypoparathyroidism1 test
Pseudohypoparathyroidism type 1B1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Rabson-Mendenhall syndrome1 test
Recurrent Neisseria infections due to factor D deficiency1 test
Renal cell carcinoma1 test
Renal coloboma syndrome1 test
Renal cysts and diabetes syndrome2 tests
Renal hypodysplasia/aplasia 11 test
Renal hypodysplasia/aplasia 21 test
Renal hypodysplasia/aplasia 31 test
Renal hypomagnesemia 21 test
Renal hypomagnesemia 41 test
Renal hypomagnesemia 5 with ocular involvement1 test
Renal hypomagnesemia 61 test
Renal hypoplasia1 test
Renal hypoplasia, isolated1 test
Renal tubular acidosis with progressive nerve deafness1 test
Renal tubular dysgenesis1 test
Renal-hepatic-pancreatic dysplasia1 test
Renal-hepatic-pancreatic dysplasia 21 test
Retinitis pigmentosa 511 test
Salla disease2 tests
Sarcotubular myopathy2 tests
Schimke immuno-osseous dysplasia1 test
Senior-Loken syndrome 51 test
Senior-Loken syndrome 61 test
Sensorineural deafness with mild renal dysfunction1 test
Septo-optic dysplasia sequence1 test
Short stature due to growth hormone qualitative anomaly1 test
Short stature due to partial GHR deficiency1 test
Short stature due to primary acid-labile subunit deficiency1 test
Short stature-pituitary and cerebellar defects-small sella turcica syndrome1 test
Sialic acid storage disease, severe infantile type1 test
Sialuria1 test
Sitosterolemia1 test
Sneddon syndrome1 test
Southeast Asian ovalocytosis1 test
Tangier disease1 test
Thrombomodulin-related bleeding disorder1 test
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to protein C deficiency, autosomal dominant1 test
Thrombophilia due to protein S deficiency, autosomal dominant1 test
Thrombotic thrombocytopenic purpura1 test
Thyroid hormone resistance, generalized, autosomal dominant1 test
Thyroid hormone resistance, generalized, autosomal recessive1 test
Tuberous sclerosis 11 test
Tuberous sclerosis 21 test
Tumoral calcinosis, hyperphosphatemic, familial, 11 test
Type 2 diabetes mellitus1 test
Type I complement component 8 deficiency1 test
Type II complement component 8 deficiency1 test
Vitamin D hydroxylation-deficient rickets, type 1B1 test
Vitamin D-dependent rickets, type 11 test
Vitamin D-dependent rickets, type 21 test
Vitamin K-dependent clotting factors, combined deficiency of, type 11 test
Vitamin K-dependent clotting factors, combined deficiency of, type 21 test
Warfarin response1 test
Williams syndrome1 test
Wilms tumor 12 tests
Wolfram syndrome1 test
Wolfram syndrome 11 test
Wolfram syndrome 21 test
Wolfram-like syndrome1 test
WT1-Related Disorders1 test
X-linked agammaglobulinemia2 tests
X-linked agammaglobulinemia with growth hormone deficiency1 test
X-linked Alport syndrome1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously
Confirmation of research findings
Custom Deletion/Duplication Testing
Prenatal testing
Custom Sequence Analysis
Carrier testing
Data Storage and Backup
Mutation Confirmation
Result interpretation

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 99D1063776, Expiration date: 2020-03-19
CAP, Number: LAP Number:7186621, Expiration date: 2019-11-15
ISO15189, Number: D-ML-13133-01-00, Expiration date: 2028-07-03

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.