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 2 of 26

• Alzheimer disease (PSEN1 gene, NGS)

  Code 10217 · Next-generation sequencing (NGS)

  Genes: PSEN1

  Turnaround time: 33 working days

• Alzheimer disease (PSEN2 gene, NGS)

  Code 10218 · Next-generation sequencing (NGS)

  Genes: PSEN2

  Turnaround time: 33 working days

• AMN gene testing (sequencing)

  Code 3343 · Sanger sequencing

  Genes: AMN

  Turnaround time: 33 working days

• Amyloid polyneuropathy (20-gene panel, NGS)

  Code 3364 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 25 working days

• Amyotrophic lateral sclerosis (23-gene panel, NGS)

  Code 3240 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis (29-gene panel, NGS)

  Code 3264 · Next-generation sequencing (NGS)

  Genes: ALS2, ANG, ATXN2, C9orf72, CHCHD10, CHMP2B, DCTN1, ERBB4 and 21 more

  Turnaround time: 43 working days

• Amyotrophic lateral sclerosis (ANG gene, NGS)

  Code 10896 · Next-generation sequencing (NGS)

  Genes: ANG

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis (C9orf72 gene, NGS)

  Code 10897 · Next-generation sequencing (NGS)

  Genes: C9orf72

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis (SOD1 gene, NGS)

  Code 10898 · Next-generation sequencing (NGS)

  Genes: SOD1

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis (TARDBP gene, NGS)

  Code 10899 · Next-generation sequencing (NGS)

  Genes: TARDBP

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis type 11 (FIG4 gene, NGS)

  Code 10901 · Next-generation sequencing (NGS)

  Genes: FIG4

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis type 15 (UBQLN2 gene, NGS)

  Code 10903 · Next-generation sequencing (NGS)

  Genes: UBQLN2

  Turnaround time: 33 working days

• Amyotrophic lateral sclerosis type 2 (ALS2 gene, NGS)

  Code 10904 · Next-generation sequencing (NGS)

  Genes: ALS2

  Turnaround time: 33 working days

• Andermann syndrome, c.2436delC mutation, SLC12A6 gene sequencing

  Code 10236 · Next-generation sequencing (NGS)

  Genes: SLC12A6

  Turnaround time: 33 working days

• Andersen syndrome (KCNJ2 gene, NGS)

  Code 10237 · Next-generation sequencing (NGS)

  Genes: KCNJ2

  Turnaround time: 33 working days

• Angelman syndrome (UBE3A gene, NGS)

  Code 10270 · Next-generation sequencing (NGS)

  Genes: UBE3A

  Turnaround time: 33 working days

• Anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema (IKBKG gene, NGS)

  Code 10677 · Next-generation sequencing (NGS)

  Genes: IKBKG

  Turnaround time: 33 working days

• Antley-Bixler syndrome (FGFR2 gene, NGS)

  Code 10282 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• Antley-Bixler type 1, ambiguous genitalia, disordered steroidogenesis (POR gene, NGS)

  Code 10283 · Next-generation sequencing (NGS)

  Genes: POR

  Turnaround time: 33 working days

• Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations, FGFR2 gene sequencing

  Code 10284 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• Apolipoprotein E - genotype

  Code 827 · PCR

  Genes: APOE

  Turnaround time: 9 working days

• Argininemia (arginase deficiency) (ARG1 gene, NGS)

  Code 10287 · Next-generation sequencing (NGS)

  Genes: ARG1

  Turnaround time: 33 working days

• Arthrogryposis (70-gene panel, NGS)

  Code 10168 · Next-generation sequencing (NGS)

  Genes: ACTA1, ADGRG6, AGRN, BIN1, CASK, CFL2, CHAT, CHRNA1 and 62 more

  Turnaround time: 33 working days

• Arthrogryposis and congenital contractures (20-gene panel, NGS)

  Code 3262 · Next-generation sequencing (NGS)

  Genes: ADCY6, CHST14, CNTNAP1, ECEL1, ERBB3, FBN2, FKBP10, GLE1 and 12 more

  Turnaround time: 33 working days

• Ataxia-telangiectasia (ATM gene, NGS)

  Code 10319 · Next-generation sequencing (NGS)

  Genes: ATM

  Turnaround time: 33 working days

• Ataxia-telangiectasia-like disorder (MRE11A gene, NGS)

  Code 10320 · Next-generation sequencing (NGS)

  Genes: MRE11A

  Turnaround time: 33 working days

• Ataxia with oculomotor apraxia (APTX gene, NGS)

  Code 10297 · Next-generation sequencing (NGS)

  Genes: APTX

  Turnaround time: 33 working days

• Ataxia with oculomotor apraxia type 4 / early infantile epileptic encephalopathy (PNKP gene, NGS)

  Code 10068 · Next-generation sequencing (NGS)

  Genes: PNKP

  Turnaround time: 33 working days

• Ataxia with vitamin E deficiency (TTPA gene, NGS)

  Code 10318 · Next-generation sequencing (NGS)

  Genes: TTPA

  Turnaround time: 33 working days

• ATR-X syndrome (ATRX gene, NGS)

  Code 10330 · Next-generation sequencing (NGS)

  Genes: ATRX

  Turnaround time: 33 working days