Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

774 tests · Page 20 of 26

• Multiple endocrine neoplasia type 1 (MEN1 gene, sequencing)

  Code 3278 · Next-generation sequencing (NGS)

  Genes: MEN1

  Turnaround time: 33 working days

• Muscle-eye-brain disease (POMGNT1 gene, NGS)

  Code 10853 · Next-generation sequencing (NGS)

  Genes: POMGNT1

  Turnaround time: 33 working days

• Muscular dystrophies (42-gene panel, NGS)

  Code 10011 · Next-generation sequencing (NGS)

  Genes: ANO5, BVES, CAPN3, CAV3, COL12A1, COL6A1, COL6A2, COL6A3 and 34 more

  Turnaround time: 33 working days

• Myoclonic dystrophy (DRD2 gene, NGS)

  Code 10740 · Next-generation sequencing (NGS)

  Genes: DRD2

  Turnaround time: 33 working days

• Myoclonic dystrophy (SGCE gene, NGS)

  Code 10739 · Next-generation sequencing (NGS)

  Genes: SGCE

  Turnaround time: 33 working days

• Myoclonus-dystonia, c.835_839delacaaa mutation, SGCE gene

  Code 10738 · Next-generation sequencing (NGS)

  Genes: SGCE

  Turnaround time: 33 working days

• Myofibrillar myopathy type 3 (MYOT gene, NGS)

  Code 11139 · Next-generation sequencing (NGS)

  Genes: MYOT

  Turnaround time: 33 working days

• Myopathies (32-gene panel, NGS)

  Code 10851 · Next-generation sequencing (NGS)

  Genes: COL12A1, COL6A1, COL6A2, COL6A3, DAG1, DES, DNAJB6, DYSF and 24 more

  Turnaround time: 33 working days

• Myopathies with contractures (11-gene panel, NGS)

  Code 10763 · Next-generation sequencing (NGS)

  Genes: COL12A1, COL6A1, COL6A2, COL6A3, EMD, FHL1, LMNA, SYNE1 and 3 more

  Turnaround time: 33 working days

• Myotonia congenita (CLCN1 gene, NGS)

  Code 11140 · Next-generation sequencing (NGS)

  Genes: CLCN1

  Turnaround time: 33 working days

• Myotonia congenita, sequencing (CLCN1 gene)

  Code 3211 · Sequencing

  Genes: CLCN1

  Turnaround time: 33 working days

• Naegeli-Franceschetti-Jadassohn syndrome (KRT14 gene, NGS)

  Code 11157 · Next-generation sequencing (NGS)

  Genes: KRT14

  Turnaround time: 33 working days

• Nasu-Hakola disease / Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (2-gene panel, NGS)

  Code 11161 · Next-generation sequencing (NGS)

  Genes: TREM2, TYROBP

  Turnaround time: 33 working days

• Nasu-Hakola disease (TREM2 gene, NGS)

  Code 11159 · Next-generation sequencing (NGS)

  Genes: TREM2

  Turnaround time: 33 working days

• Nasu-Hakola disease (TYROBP gene, NGS)

  Code 11160 · Next-generation sequencing (NGS)

  Genes: TYROBP

  Turnaround time: 33 working days

• Nemaline myopathy (KLHL40 gene, NGS)

  Code 10090 · Next-generation sequencing (NGS)

  Genes: KLHL40

  Turnaround time: 33 working days

• Nemaline myopathy type 2 (NEB gene, NGS)

  Code 11133 · Next-generation sequencing (NGS)

  Genes: NEB

  Turnaround time: 33 working days

• Nemaline myopathy type 2 (NEB gene, NGS)

  Code 3465 · Next-generation sequencing (NGS)

  Genes: NEB

  Turnaround time: 33 working days

• Neonatal citrullinemia type II (SLC25A13 gene, NGS)

  Code 10483 · Next-generation sequencing (NGS)

  Genes: SLC25A13

  Turnaround time: 33 working days

• Neuralgic amyotrophy (SEPT9 gene, NGS)

  Code 10235 · Next-generation sequencing (NGS)

  Genes: SEPT9

  Turnaround time: 33 working days

• Neuroacanthocytosis, Wilson disease and hemochromatosis (25-gene panel, NGS)

  Code 10178 · Next-generation sequencing (NGS)

  Genes: ATN1, ATP13A2, ATP7B, C19orf12, COASY, CP, DCAF17, FA2H and 17 more

  Turnaround time: 33 working days

• Neurodegenerative spongiform encephalopathies (PRNP gene, NGS)

  Code 10848 · Next-generation sequencing (NGS)

  Genes: PRNP

  Turnaround time: 33 working days

• Neurodevelopmental disorder with hypotonia, seizures, and absent language (HECW2 gene, NGS)

  Code 11351 · Next-generation sequencing (NGS)

  Genes: HECW2

  Turnaround time: 33 working days

• Neurofibromatosis (2-gene panel, NGS)

  Code 10049 · Next-generation sequencing (NGS)

  Genes: NF1, NF2

  Turnaround time: 33 working days

• Neurofibromatosis-like syndromes (8-gene panel, NGS)

  Code 11165 · Next-generation sequencing (NGS)

  Genes: KIT, KITLG, NF1, NF2, PTPN11, RAF1, SMARCB1, SPRED1

  Turnaround time: 33 working days

• Neurofibromatosis type 1, MLPA (NF1 gene)

  Code 3207 · MLPA

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 1 (point mutation) [Amniotic fluid]

  Code 3147 · Sequencing

  Genes: NF1

  Turnaround time: 30 working days

• Neurofibromatosis type 1, sequencing (NF1 gene)

  Code 3206 · Next-generation sequencing (NGS)

  Genes: NF1

  Turnaround time: 33 working days

• Neurofibromatosis type 2, MLPA (NF2 gene)

  Code 3163 · MLPA

  Genes: NF2

  Turnaround time: 93 working days

• Neurofibromatosis type 2, sequencing (NF2 gene)

  Code 3153 · PCR / Sequencing

  Genes: NF2

  Turnaround time: 93 working days