Gene panels sequencing by NGS Next Generation Sequencing

The massive parallel sequencing or Next Generation Sequencing (NGS) is an innovative and highly versatile technology that allows the parallel sequencing of millions DNA fragments: it allows to perform multiple genes analysis, with a higher diagnostic performance than the traditional sequencing. It drastically reduce genetic analysis times.

Microgenomics laboratory developed specific gene panels to investigate different pathological conditions and identify their causes.

Discover our gene panels:

♦ AUTISM SPECTRUM DISORDERS panel
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♦ BARDET-BIEDL SYNDROME panel
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♦ BRCA 1 & 2 panel
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♦ CARDIAC ARRHYTHMIA panel
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♦ CEREBRAL CAVERNOUS MALFORMATIONS (CCM) panel
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♦ CEREBRAL MALFORMATIONS panel
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♦ COFFIN-SIRIS E NICOLAIDES-BARAITSER SYNDROMES panel
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♦ CORNELIA DE LANGE SYNDROME panel
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♦ CRANIOSYNOSTOSES panel

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♦ DEAFNESS panel
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♦ DILATED AND HIPERTROPHIC CARDIOMYOPATHY panel

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♦ DISPROPORTIONATE/SYNDROMIC SHORT STATURE AND SKELETAL DYSPLASIAS panel

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♦ EHLERS-DANLOS SYNDROME, LOEYS-DIETZ SYNDROME AND AORTIC ANEURYSM panel
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♦ EPILEPSY panel
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♦ GLYCOGEN STORAGE DISEASES panel
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♦ HEMIHYPERTROPHIA panel new!
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♦ HEREDITARY CANCER panel new!
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♦ HIPOPITUITARISM & GH DEFICIT panel new!
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♦ HYPERCHOLESTEROLEMIA panel
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♦ HNPCC (LYNCH SYNDROME) panel
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♦ INTELLECTUAL DISABILITY panel
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♦ JOUBERT SYNDROME panel
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♦ KLIPPEL-FEIL SYNDROME panel new!
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♦ LIMB-GIRDLE MUSCULAR DYSTROPHY panel
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♦ LYSOSOMAL STORAGE DISEASES panel

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♦ MICROPHTHALMIA/ANOPHTHALMIA panel
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♦ MEIER GORLIN SYNDROME panel
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♦ MODY – MATURITY ONSET DIABETES OF THE YOUNG panel
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♦ NEUROMUSCOLAR DISORDERS panel
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♦ NON SYNDROMIC CATARACT panel new!
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♦ NOONAN SYNDROME panel
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♦ OPTIC ATROPHY panel
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♦ OSTEOGENESIS IMPERFECTA panel
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♦ OSTEOGENESIS IMPERFECTA AND DECREASE BONE DENSITY panel
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♦ OVERGROWTH SYNDROMES panel
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♦ PRIMARY MICROCEPHALY panel
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♦ PROPORTIONATE SHORT STATURE panel
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♦ RETINITIS PIGMENTOSA panel
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♦ RETT SYNDROME panel
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♦ SENIOR LOKEN SYNDROME panel
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♦ SEXUAL DEVELOPMENT DISORDERS panel
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♦ SYNDROMIC AND NON-SYNDROMIC OBESITY panel
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♦ SYNDROMIC CATARACT panel new!
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♦ SMALL VESSEL DISEASES panel new!
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♦ STICKLER SYNDROME panel
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♦ USHER SYNDROME panel
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♦ WAARDENBURG SYNDROME panel
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♦ X-LINKED INTELLECTUAL DISABILITY panel
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