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Molecular Genetics
We at Bioscientia are currently expanding our range of human genetic services.
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Frequent indications for a molecular genetic analysis:
- Confirmation of a clinical tentative diagnosis
- Diagnostic assessment of the vector property in case of monogenic diseases
- Diagnostic assessment of the pathogenesis of a disease prior to prophylactic or therapeutic measures
Sampling/Shipping guidelines
Show sampling and transport informations close sampling and transport informations
For moleculargenetic Tests: Please send all samples at room temperature
- EDTA-Blood
2-3 ml infant and toddler
4-10 ml teenager and adults - DNA
minimum amount 1 - 5 µg
for FraX analysis minimum amount 20-50 µg
for prenatal analysis after previous consulting
- Heparin blood: 5 - 10 ml
- amniotic fluid 15 - 20 ml
- chorionic villi 10-20 mg in transport medium
- cell culture: at least 25 ml culture bootle densely covered
NGS - Panel diagnostics
For further informations please contact us under int.support@bioscientia.com
Show hints for NGS - Panel diagnostics Close hints to NGS panel diagnostics
- Achromatopsia (ACHM)
- ADPKD (autosomal dominant polycystic kidney disease)
- Albinism
- Aldosterone-sensitive distal nephron
- Alport syndrome
- Amyotrophic lateral sclerosis (ALS)
- Anophthalmia/Microphthalmia
- ARC syndrome (Arthrogryposis - Renal dysfunction - Cholestasis)
- ARPKD (autosomal recessive polycystic kidney disease)
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) /dysplasia
- Arthrogryposis
- Ataxia
- Bardet-Biedl syndrome (incl. Alstrom syndrome)
- Bartter syndrome
- BOR syndrome
- Brugada syndrome
- Breast- and Ovarian cancer
- CAKUT (Congenital Anomalies of the Kidney and Urinary Tract)
- CMT (Charcot-Marie-Tooth) neuropathy
- Cystinuria
- Dent syndrome
- Diabetes, neonatal
- Diabetes mellitus (MODY etc.)
- Ehlers-Danlos syndrome
- Ellis-van-Crefeld syndrome
- Epilepsy
- Familial exudative Vitreoretinopathy (FEVR)
- Familial Glukocortikoid deficiency
- Fanconi anemia
- Fatty acid oxidation disorders
- Fokal segmental glomerulosclerosis (FSGS)
- Gitelman syndrome
- Glaucoma
- Limb-girdle muscular dystrophy (LGMD)
- Glukocortikoid deficiency
- Glycogen storage disease
- Hemolytic-uremic syndrome (aHUS)
- Hereditary sensory and autonomic neuropathy (HSAN)
- Heterotaxy syndrome
- Corneal dystrophies
- (HMSN) Hereditary motor and sensory neuropathy
- Hyperinsulinism
- Hypoglycemia
- Hypogonadism
- Hypomagnesemia
- Hypophosphatemic ricket
- Hypopituitarism
- Jervell- and Lange-Nielsen syndrome, SANDD syndrome
- Jeune syndrome and other short-rip-polydactyly syndromes
- Joubert syndrome
- Kallmann syndrome
- Cardiomyopathy, dilated (DVM) hg 15
- Cardiomyopathy, hypertrophic (HCM)
- Kartagener syndrome
- Cataract
- Short Stature
- Colorectal cancer
- Larsen syndrome
- Leber congenital amaurosis (LCA)
- Leukoencephalopathies
- Long-QT syndrome
- Marfan syndrome and related diseases
- Meckel-Gruber syndrome
- Medullary cystic kidney disease (MCKD)
- Membranoproliferative glomerulonephritis (MPGN)
- Microcephaly
- MODY diabetes
- Muscular dystrophies
- Myopathies, distal
- Night blindness, congenital
- Nephronophthisis (NPHP)
- Nephrotic syndrome (SRNS)
- Neurofibromatosis (NF)
- Neuronal ceroid lipofuscinosis (NCL)
- Neuronal migration disorder
- Renal hypo-/dysplasia/-agenesis
- Renal carcinoma
- Renal calculus disorder
- Noonan syndrome
- Nystagmus
- Optic atrophy
- Orofaciodigital syndrome (OFD)
- Osteogenesis imperfecta
- Pancreas carcinoma
- Polycystic liver disease (PCLD)
- Polycystic kidney disease (ADPKD / ARPKD)
- Primary ciliary dyskinesia (PCD)
- progressive mypclonic epilepsy
- Prostate cancer
- Tubulopathies, proximal
- Renal tubular acidosis
- Renal tubular dysgenesis (RTD)
- Retinitis pigmentosa
- Salt wasting syndrome (Bartter etc.)
- Senior-Loken syndrome
- Sensenbrenner syndrome
- Spastiv paraplegia
- Spinal muscular atrophy (SMA), distal forms
- Stargardt disease
- Deafness
- Tuberous sclerosis (TSC)
- Urolithiasis
- Usher syndrome
- Von Hippel-Lindau disease (VHL)
- Growth hormone deficiency
- Walker-Warburg syndrome
- Xeroderma pigmentosum
- Cone-rod dystrophy/ macular dystrophy
- Renal cysts
Molecular genetic diagnostics for different tissues and organs:
show categories close categories
- Blood disorders
- Cancer / Leukemia / Tumor
- Cardiac disorders
- Chromosome instability
- Connective tissue disorder
- Deafness
- Dementia
- Endocrinology
- Epigenetic disorder
- Epilepsy
- Eye (retinal) disorders
- Eye disorders
- Gastroenterologic disorders
- Immune system disorders
- Infertility
- Inflammation
- Kidney disorders
- Makrosomia / Giantism
- Malformation syndromes
- Mental retardation
- Metabolic disorders
- Mitochodriopathies
- Neurology / Neuropathies
- Neuromuscular disorders
- Pharmacogenetics
- Short stature
- Skeletal disorders
- Skin and nail disorders
- Storage disorders
- Usher syndrome
- Vasculopathies