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 21 of 26

• Neuromuscular channelopathies (26-gene panel, NGS)

  Code 10017 · Next-generation sequencing (NGS)

  Genes: AGRN, ATP2A1, CACNA1A, CACNA1S, CHRNA1, CHRNA2, CHRNA4, CHRNB1 and 18 more

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (10-gene panel, NGS)

  Code 11096 · Next-generation sequencing (NGS)

  Genes: CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5, GRN, MFSD8 and 2 more

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN3 gene, NGS)

  Code 11098 · Next-generation sequencing (NGS)

  Genes: CLN3

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN5 gene, NGS)

  Code 11100 · Next-generation sequencing (NGS)

  Genes: CLN5

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN6 gene, NGS)

  Code 11101 · Next-generation sequencing (NGS)

  Genes: CLN6

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CLN8 gene, NGS)

  Code 11102 · Next-generation sequencing (NGS)

  Genes: CLN8

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (CTSD gene, NGS)

  Code 11103 · Next-generation sequencing (NGS)

  Genes: CTSD

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (MFSD8 gene, NGS)

  Code 11099 · Next-generation sequencing (NGS)

  Genes: MFSD8

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (PPT1 gene, NGS)

  Code 11104 · Next-generation sequencing (NGS)

  Genes: PPT1

  Turnaround time: 33 working days

• Neuronal ceroid lipofuscinosis (TPP1 gene, NGS)

  Code 11097 · Next-generation sequencing (NGS)

  Genes: TPP1

  Turnaround time: 33 working days

• Neuro-ophthalmology (33-gene panel, NGS)

  Code 10025 · Next-generation sequencing (NGS)

  Genes: ACO2, AFG3L2, APTX, C12orf65, FRMD7, GPR143, HESX1, MFN2 and 25 more

  Turnaround time: 33 working days

• Neutral lipid storage disease with myopathy, without ichthyosis (PNPLA2 gene, NGS)

  Code 10854 · Next-generation sequencing (NGS)

  Genes: PNPLA2

  Turnaround time: 33 working days

• NGS panel, 30-50 genes (NGS)

  Code 10089 · Next-generation sequencing (NGS)

  Genes: PAIdo

  Turnaround time: 33 working days

• Niemann-Pick disease (3-gene panel, NGS)

  Code 11176 · Next-generation sequencing (NGS)

  Genes: NPC1, NPC2, SMPD1

  Turnaround time: 33 working days

• Niemann-Pick disease (type C2) (NPC2 gene, NGS)

  Code 11179 · Next-generation sequencing (NGS)

  Genes: NPC2

  Turnaround time: 33 working days

• Niemann-Pick disease (types A and B) (SMPD1 gene, NGS)

  Code 11177 · Next-generation sequencing (NGS)

  Genes: SMPD1

  Turnaround time: 33 working days

• Niemann-Pick disease (types C1 and D) (NPC1 gene, NGS)

  Code 11178 · Next-generation sequencing (NGS)

  Genes: NPC1

  Turnaround time: 33 working days

• Niemann-Pick disease (types C and D) (2-gene panel, NGS)

  Code 11180 · Next-generation sequencing (NGS)

  Genes: NPC1, NPC2

  Turnaround time: 33 working days

• Nijmegen breakage syndrome (NBN gene, NGS)

  Code 11181 · Next-generation sequencing (NGS)

  Genes: NBN

  Turnaround time: 33 working days

• Oculocutaneous albinism type 1 (TYR gene, NGS)

  Code 10195 · Next-generation sequencing (NGS)

  Genes: TYR

  Turnaround time: 33 working days

• Oculopharyngeal muscular dystrophy

  Code 3006 · Molecular biology

  Genes: PABPN1

  Turnaround time: 63 working days

• Ohdo syndrome, SBBYS type (KAT6B gene, NGS)

  Code 11210 · Next-generation sequencing (NGS)

  Genes: KAT6B

  Turnaround time: 33 working days

• Omenn syndrome (DCLRE1C gene, NGS)

  Code 11211 · Next-generation sequencing (NGS)

  Genes: DCLRE1C

  Turnaround time: 33 working days

• Opitz-Kaveggia syndrome (MED12 gene, NGS)

  Code 11216 · Next-generation sequencing (NGS)

  Genes: MED12

  Turnaround time: 33 working days

• Opitz syndrome (MID1 gene, NGS)

  Code 11215 · Next-generation sequencing (NGS)

  Genes: MID1

  Turnaround time: 33 working days

• Optic neuropathy mutation testing

  Code 3069 · PCR

  Genes: LHON, 3 mutações frequentes

  Turnaround time: 33 working days

• Ornithine transcarbamylase deficiency (OTC gene, NGS)

  Code 10586 · Next-generation sequencing (NGS)

  Genes: OTC

  Turnaround time: 33 working days

• Orofaciodigital syndrome type 1 (OFD1 gene, NGS)

  Code 3277 · Next-generation sequencing (NGS)

  Genes: OFD1

  Turnaround time: 33 working days

• Osteogenesis imperfecta (13-gene panel, NGS)

  Code 11220 · Next-generation sequencing (NGS)

  Genes: COL1A1, COL1A2, CRTAP, LEPRE1, SERPINF1, IFITM5, FKBP10, PPIB and 5 more

  Turnaround time: 33 working days

• Osteoporosis, autosomal recessive type 4 (CLCN7 gene, NGS)

  Code 11231 · Next-generation sequencing (NGS)

  Genes: CLCN7

  Turnaround time: 33 working days