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 10 of 26

• Early-onset myopathy, areflexia, respiratory distress, and dysphagia syndrome (EMARDD) (MEGF10 gene, NGS)

  Code 10185 · Next-generation sequencing (NGS)

  Genes: MEGF10

  Turnaround time: 33 working days

• Encephalopathy due to prosaposin deficiency (PSAP gene, NGS)

  Code 10838 · Next-generation sequencing (NGS)

  Genes: PSAP

  Turnaround time: 33 working days

• Epidermolysis bullosa simplex (KRT14 gene, NGS)

  Code 10868 · Next-generation sequencing (NGS)

  Genes: KRT14

  Turnaround time: 33 working days

• Epidermolysis bullosa simplex with muscular dystrophy (PLEC gene, NGS)

  Code 10869 · Next-generation sequencing (NGS)

  Genes: PLEC

  Turnaround time: 33 working days

• Epileptic encephalopathies (gene panel + mtDNA, NGS)

  Code 3474 · Next-generation sequencing (NGS) + mtDNA

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Episodic ataxia (4-gene panel, NGS)

  Code 10303 · Next-generation sequencing (NGS)

  Genes: KCNA1, CACNA1A, CACNB4, SLC1A3

  Turnaround time: 33 working days

• Episodic ataxia type 1 (KCNA1 gene, NGS)

  Code 10304 · Next-generation sequencing (NGS)

  Genes: KCNA1

  Turnaround time: 33 working days

• Episodic ataxia type 2 (CACNA1A gene, NGS)

  Code 10305 · Next-generation sequencing (NGS)

  Genes: CACNA1A

  Turnaround time: 33 working days

• Episodic ataxia type 5 (CACNB4 gene, NGS)

  Code 10306 · Next-generation sequencing (NGS)

  Genes: CACNB4

  Turnaround time: 33 working days

• Episodic ataxia type 6 (SLC1A3 gene, NGS)

  Code 10307 · Next-generation sequencing (NGS)

  Genes: SLC1A3

  Turnaround time: 33 working days

• Ethylmalonic encephalopathy (ETHE1 gene, NGS)

  Code 10843 · Next-generation sequencing (NGS)

  Genes: ETHE1

  Turnaround time: 33 working days

• Exclusion of homozygosity in Huntington disease

  Code 3142 · Molecular hybridization / PCR

  Genes: HTT

  Turnaround time: 21 working days

• Exclusion of uniparental disomy of chromosome 14

  Code 3054 · Cytogenetic analysis

  Genes: Dissomia uniparental do cromossoma 14

  Turnaround time: 15 working days

• Exclusion of uniparental disomy of chromosome 7

  Code 3063 · Cytogenetic analysis

  Genes: Dissomia uniparental do cromossoma 7

  Turnaround time: 15 working days

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Fabry disease (GLA gene, NGS)

  Code 10917 · Next-generation sequencing (NGS)

  Genes: GLA

  Turnaround time: 33 working days

• Facial dysostosis (27-gene panel, NGS)

  Code 10746 · Next-generation sequencing (NGS)

  Genes: ALPL, ALX3, ALX4, CHD7, CREBBP, DHODH, DLL3, EFNB1 and 19 more

  Turnaround time: 33 working days

• Facioscapulohumeral muscular dystrophy FSHD1 (NGS)

  Code 10787 · Next-generation sequencing (NGS)

  Genes: DISdo

  Turnaround time: 33 working days

• Facioscapulohumeral muscular dystrophy FSHD2 (SMCHD1 gene, NGS)

  Code 10788 · Next-generation sequencing (NGS)

  Genes: SMCHD1

  Turnaround time: 33 working days

• Fahr syndrome (11-gene panel, NGS)

  Code 10029 · Next-generation sequencing (NGS)

  Genes: ADAR, IFIH1, PDGFB, PDGFRB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1 and 3 more

  Turnaround time: 33 working days

• Familial acute necrotizing encephalopathy (RANBP2 gene, NGS)

  Code 10830 · Next-generation sequencing (NGS)

  Genes: RANBP2

  Turnaround time: 33 working days

• Familial amyloidosis, Finnish type (GSN gene, NGS)

  Code 10233 · Next-generation sequencing (NGS)

  Genes: GSN

  Turnaround time: 33 working days

• Familial amyloidosis, p.Val50Met (V30M) mutation, TTR gene

  Code 10231 · Next-generation sequencing (NGS)

  Genes: TTR

  Turnaround time: 33 working days

• Familial amyloidosis (TTR gene, NGS)

  Code 10232 · Next-generation sequencing (NGS)

  Genes: TTR

  Turnaround time: 33 working days

• Familial amyloid polyneuropathy (FAP)

  Code 2445 · PCR

  Genes: TTR

  Turnaround time: 33 working days

• Familial Behçet-like autoinflammatory syndrome (TNFAIP3 gene, NGS)

  Code 10334 · Next-generation sequencing (NGS)

  Genes: TNFAIP3

  Turnaround time: 33 working days

• Familial dysautonomia (Riley-Day syndrome) (IKBKAP gene, NGS)

  Code 10647 · Next-generation sequencing (NGS)

  Genes: IKBKAP

  Turnaround time: 33 working days

• Familial focal epilepsy with variable foci (DEPDC5 gene, NGS)

  Code 10873 · Next-generation sequencing (NGS)

  Genes: DEPDC5

  Turnaround time: 33 working days

• Familial hemiplegic migraine (4-gene panel, NGS)

  Code 10024 · Next-generation sequencing (NGS)

  Genes: ATP1A2, CACNA1A, PRRT2, SCN1A

  Turnaround time: 33 working days