Broad Spectrum of targeted NGS gene panels
Diagnostic targeted NGS by massive parallel sequencing has been established in our laboratory for a wide spectrum of Mendelian Disorders, our NGS workflows are accredited according to DIN DIN EN ISO 15189:
| Clinical conditions |
Number of analyzed core genes + additional associated genes (= step 2) with CNV analysis, + MLPA | |
| Brain Malformations |
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| HPE | Holoprosencephaly | 4 + 28 |
| SCHIZ | Schizencephaly | 4 + 4 |
| HYZ | Hydrocephalus | 4 + 17 |
| LIS | Classic Lissencephaly/Pachygyria | 4 + 11 |
| DC | Double cortex/Subcortical Bandheterotopia | 3 + 3 |
| PNH | Periventricular Nodular Heterotopia | 2 |
| PMG | Polymicrogyria | 5 + 19 |
| aDG | Cobblestone Lissencephaly/alpha-Dystroglycanopathy | 7 + 39 |
| MCD | Malformations of cortical Development complex/unspecified | 5 + 42 |
| MIC | Mikrocephaly | 8 + 45 |
| AIC | Aicardi-Goutieres Syndrome | 5 |
| IKAL | Intracranial Calcification | 3 + 31 |
| POR | Porencephaly/intracranial Haemorrhage | 2 |
| HYD | Hydranencephaly | 3 + 5 |
| MEG | Megalencephaly | 2 + 5 |
| Retinal Disorders | ||
| RD121 | Retinopathy | 121 |
| LCA | Leber congenital Amaurosis | 25 |
| MD | Macula degeneration | 17 |
| RP | Retinitis Pigmentosa | 78 |
| CD/CRD | Cone-/Cone-rod-dystrophy | 35 |
| Hereditary Cancer Syndromes | ||
| BRCA | Familial Breast and Ovarian Cancer | 10 |
| HNPCC | Hereditary Non-Polyposis Colorectal Cancer | 4 |
| Neurodegenerative Disorders |
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| CCM | Cerebral Cavernous Malformations | 3 |
| HSP | Hereditary Spastic Paraplegia | 7 + 72 |
| LEP | Leukoencephalopathy | 5 + 89 |
| Liver Disorders |
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| ALG | Alagille Syndrome | 2 + 1 |
| PFIC | Progredient Familial Intrahepatic Cholestasis | 4 |
| CHOL | Cholestasis | 18 + 75 |
| Pulmonary Disorders | ||
| PUF | Pulmonary Fibrosis | 4 + 20 |
| SUR | Surfactant Dysfunction | 5 |
| Craniofacial and Skeletal Disorders |
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| TCS | Treacher-Collins Syndrome | 3 |
| FDO | Fazial Dysostosis | 4 + 26 |
| CSO | Craniosynostosis | 6 + 31 |
| GGS | Gorlin-Goltz Syndrome | 3 |
| EVC | Ellis-van-Creveld Syndrome | 2 |
| LRS | Larsen Syndrome | 1 + 5 |
| OPD | OPD Spectrum Disorders | 1 + 4 |
| SKD | Prenatal Skeletal Dysplasias | 9 + 20 |
| MFN | Marfan Syndrome/Marfan-like Connective Tissue Disorders | 3 + 9 |
| MPT | Microphthalmia | 3 + 11 |
| ED | Ectodermal Dysplasias | 5 + 10 |
Genetic alterations observed by NGS are evaluated with standardized in-house protocols including comparison to the human reference genome hg19, publicly available and our own mutation database as well as by in silico prediction of potential functional consequences applying different algorithms. Sequence alterations, clinically relevant or potentially clinically relevant for your patient, are confirmed by Sanger sequencing and reported in an individual medical report considering the clinical findings of your patient.
In addition, our bioinformatic evaluation also includes a search for copy number variations in all genes analyzed within the current technical limitations, core gene analysis is commonly complemented by MLPA, i f available.
Please contact us, if you have further questions concerning your patient’s clinical findings, required samples, forms, shipping or costs: info@humangenetik-regensburg.de