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

221 tests · Page 6 of 8

• Myotonic dystrophy type 1 [Steinert] (DMPK gene)

  Code 3020 · PCR / Fragment analysis

  Genes: Expansão CTG no gene DMPK

  Turnaround time: 33 working days

• Myotonic dystrophy type 2, CCTG repeat expansion (CNBP gene)

  Code 3216 · Molecular hybridization (PCR)

  Genes: CNBP

  Turnaround time: 63 working days

• Nail-patella-like renal disease (LMX1B gene, NGS)

  Code 11158 · Next-generation sequencing (NGS)

  Genes: LMX1B

  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

• Norrie disease (NDP gene, NGS)

  Code 11194 · Next-generation sequencing (NGS)

  Genes: NDP

  Turnaround time: 33 working days

• Nystagmus (2-gene panel, NGS)

  Code 11183 · Next-generation sequencing (NGS)

  Genes: FRMD7, GPR143

  Turnaround time: 33 working days

• Ocular albinism type 1 (GPR143 gene, NGS)

  Code 10193 · Next-generation sequencing (NGS)

  Genes: GPR143

  Turnaround time: 33 working days

• Oculocutaneous albinism type 2 (MITF gene, NGS)

  Code 10196 · Next-generation sequencing (NGS)

  Genes: MITF

  Turnaround time: 33 working days

• Oculocutaneous albinism type 2 (OCA2 gene, NGS)

  Code 10197 · Next-generation sequencing (NGS)

  Genes: OCA2

  Turnaround time: 33 working days

• Oculopharyngeal muscular dystrophy

  Code 3006 · Molecular biology

  Genes: PABPN1

  Turnaround time: 63 working days

• Oguchi disease (GRK1 gene, NGS)

  Code 11209 · Next-generation sequencing (NGS)

  Genes: GRK1

  Turnaround time: 33 working days

• Oguchi disease (SAG gene, NGS)

  Code 11208 · Next-generation sequencing (NGS)

  Genes: SAG

  Turnaround time: 33 working days

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

  Code 11210 · Next-generation sequencing (NGS)

  Genes: KAT6B

  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 atrophy (14-gene panel, NGS)

  Code 3300 · Next-generation sequencing (NGS)

  Genes: ACO2, AFG3L2, C12ORF65, CISD2, MFN2, NR2F1, OPA1, OPA3 and 6 more

  Turnaround time: 33 working days

• Optic atrophy (16-gene panel, NGS)

  Code 10326 · Next-generation sequencing (NGS)

  Genes: ACO2, AFG3L2, C12orf65, CISD2, MFN2, NBAS, NR2F1, OPA1 and 8 more

  Turnaround time: 33 working days

• Optic atrophy type 1 (OPA1 gene, MLPA)

  Code 3472 · MLPA

  Genes: OPA1

  Turnaround time: 33 working days

• Optic atrophy type 7 (TMEM126A gene, NGS)

  Code 10329 · Next-generation sequencing (NGS)

  Genes: TMEM126A

  Turnaround time: 33 working days

• Optic neuropathy mutation testing

  Code 3069 · PCR

  Genes: LHON, 3 mutações frequentes

  Turnaround time: 33 working days

• PANK2 and FTL gene testing (NGS)

  Code 3323 · Next-generation sequencing (NGS)

  Genes: PANK2, FTL

  Turnaround time: 33 working days