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

911 tests · Page 3 of 31

• Anophthalmia, microphthalmia and anterior segment dysgenesis (25-gene panel, NGS)

  Code 10083 · Next-generation sequencing (NGS)

  Genes: BCOR, BMP4, COL4A1, CYP1B1, FOXC1, FOXE3, FRAS1, FREM1 and 17 more

  Turnaround time: 33 working days

• Anophthalmia - microphthalmia, isolated, MFRP (MFRP gene, NGS)

  Code 10278 · Next-generation sequencing (NGS)

  Genes: MFRP

  Turnaround time: 33 working days

• Anophthalmia - microphthalmia, isolated (PRSS56 gene, NGS)

  Code 10279 · Next-generation sequencing (NGS)

  Genes: PRSS56

  Turnaround time: 33 working days

• Antithrombin III deficiency (SERPINC1 gene, sequencing)

  Code 3325 · Sanger sequencing

  Genes: SERPINC1

  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

• APOA5 gene sequencing (Apo A-V)

  Code 3134 · Sequencing

  Genes: APOA5

  Turnaround time: 33 working days

• APOC2 gene sequencing (Apo C-II)

  Code 3136 · Sequencing

  Genes: APOC2

  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

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (DYNC2H1 gene, NGS)

  Code 10797 · Next-generation sequencing (NGS)

  Genes: DYNC2H1

  Turnaround time: 33 working days

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (IFT80 gene, NGS)

  Code 10795 · Next-generation sequencing (NGS)

  Genes: IFT80

  Turnaround time: 33 working days

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (TTC21B gene, NGS)

  Code 10796 · Next-generation sequencing (NGS)

  Genes: TTC21B

  Turnaround time: 33 working days

• Asphyxiating thoracic dystrophy of the newborn (Jeune syndrome) (WDR19 gene, NGS)

  Code 10798 · Next-generation sequencing (NGS)

  Genes: WDR19

  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

• Atrial septal defects (GATA4 gene, NGS)

  Code 10535 · Next-generation sequencing (NGS)

  Genes: GATA4

  Turnaround time: 33 working days

• Atrioventricular canal defect (GATA4 gene, NGS)

  Code 10280 · Next-generation sequencing (NGS)

  Genes: GATA4

  Turnaround time: 33 working days

• ATR-X syndrome (ATRX gene, NGS)

  Code 10330 · Next-generation sequencing (NGS)

  Genes: ATRX

  Turnaround time: 33 working days

• Autism (104-gene panel, NGS)

  Code 3316 · Next-generation sequencing (NGS)

  Genes: ADNP, ADSL, ALDH5A1, AMT, ANKRD11, AP1S2, ARID1B, ARX and 96 more

  Turnaround time: 33 working days

• Autism with macrocephaly (PTEN gene, NGS)

  Code 10332 · Next-generation sequencing (NGS)

  Genes: PTEN

  Turnaround time: 33 working days

• Autosomal anhidrotic ectodermal dysplasia (2-gene panel, NGS)

  Code 10673 · Next-generation sequencing (NGS)

  Genes: EDARADD, EDAR

  Turnaround time: 33 working days

• Autosomal dominant lateral temporal lobe epilepsy (LGI1 gene, NGS)

  Code 10883 · Next-generation sequencing (NGS)

  Genes: LGI1

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (4-gene panel, NGS)

  Code 10878 · Next-generation sequencing (NGS)

  Genes: CHRNA4, CHRNB2, CHRNA2, KCNT1

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (CHRNA2 gene, NGS)

  Code 10876 · Next-generation sequencing (NGS)

  Genes: CHRNA2

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (CHRNA4 gene, NGS)

  Code 10874 · Next-generation sequencing (NGS)

  Genes: CHRNA4

  Turnaround time: 33 working days

• Autosomal dominant nocturnal frontal lobe epilepsy (CHRNB2 gene, NGS)

  Code 10875 · Next-generation sequencing (NGS)

  Genes: CHRNB2

  Turnaround time: 33 working days