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 26 of 26

• Ullrich congenital muscular dystrophy (COL6A2 gene, NGS)

  Code 10761 · Next-generation sequencing (NGS)

  Genes: COL6A2

  Turnaround time: 33 working days

• Ullrich congenital muscular dystrophy (COL6A3 gene, NGS)

  Code 10762 · Next-generation sequencing (NGS)

  Genes: COL6A3

  Turnaround time: 33 working days

• Usher syndrome type IV (ARSG gene, NGS, CNVs)

  Code 3537 · Next-generation sequencing (NGS) + CNVs

  Genes: ARSG

  Turnaround time: 30 working days

• Vitamin B12-responsive methylmalonic acidemia (MMAA gene, NGS)

  Code 10117 · Next-generation sequencing (NGS)

  Genes: MMAA

  Turnaround time: 33 working days

• Vitelliform macular dystrophy, adult form (BEST1 gene, NGS)

  Code 10758 · Next-generation sequencing (NGS)

  Genes: BEST1

  Turnaround time: 33 working days

• Von Hippel-Lindau syndrome (VHL gene, NGS)

  Code 11353 · Next-generation sequencing (NGS)

  Genes: VHL

  Turnaround time: 33 working days

• Waardenburg syndrome (gene panel, NGS)

  Code 3396 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 20 working days

• Weaver syndrome (EZH2 gene, NGS)

  Code 11356 · Next-generation sequencing (NGS)

  Genes: EZH2

  Turnaround time: 33 working days

• Wilson disease (ATP7B gene, NGS)

  Code 4240 · Next-generation sequencing (NGS)

  Genes: ATP7B

  Turnaround time: 30 working days

• Wolfram syndrome / autosomal dominant hearing loss 6/14/38 (WFS1 gene, NGS)

  Code 11359 · Next-generation sequencing (NGS)

  Genes: WFS1

  Turnaround time: 33 working days

• Wolfram syndrome, sequencing (WFS1 gene)

  Code 3217 · Sanger sequencing

  Genes: WFS1

  Turnaround time: 23 working days

• X-linked Asperger syndrome (NLGN3 gene, NGS)

  Code 10296 · Next-generation sequencing (NGS)

  Genes: NLGN3

  Turnaround time: 33 working days

• X-linked autism (NLGN4X gene, NGS)

  Code 10331 · Next-generation sequencing (NGS)

  Genes: NLGN4X

  Turnaround time: 33 working days

• X-linked Charcot-Marie-Tooth disease (GJB1 gene, NGS)

  Code 10469 · Next-generation sequencing (NGS)

  Genes: GJB1

  Turnaround time: 33 working days

• X-linked Charcot-Marie-Tooth disease (GJB1 gene, sequencing)

  Code 3336 · Sanger sequencing

  Genes: GJB1

  Turnaround time: 30 working days

• X-linked Charcot-Marie-Tooth disease type 5 (PRPS1 gene, NGS)

  Code 10470 · Next-generation sequencing (NGS)

  Genes: PRPS1

  Turnaround time: 33 working days

• X-linked dominant hypophosphatemic rickets (PHEX gene, NGS)

  Code 11328 · Next-generation sequencing (NGS)

  Genes: PHEX

  Turnaround time: 33 working days

• X-linked Emery-Dreifuss muscular dystrophy (EMD gene, NGS)

  Code 10786 · Next-generation sequencing (NGS)

  Genes: EMD

  Turnaround time: 33 working days

• X-linked Emery-Dreifuss muscular dystrophy (FHL1 gene, NGS)

  Code 10785 · Next-generation sequencing (NGS)

  Genes: FHL1

  Turnaround time: 33 working days

• X-linked hydrocephalus (L1CAM gene, NGS)

  Code 10983 · Next-generation sequencing (NGS)

  Genes: L1CAM

  Turnaround time: 33 working days

• X-linked idiopathic short stature (SHOX gene, NGS)

  Code 10347 · Next-generation sequencing (NGS)

  Genes: SHOX

  Turnaround time: 33 working days

• X-linked intellectual disability - cerebellar hypoplasia (OPHN1 gene, NGS)

  Code 10606 · Next-generation sequencing (NGS)

  Genes: OPHN1

  Turnaround time: 33 working days

• X-linked lissencephaly (DCX gene, NGS)

  Code 11108 · Next-generation sequencing (NGS)

  Genes: DCX

  Turnaround time: 33 working days

• X-linked periventricular heterotopia (FLNA gene, NGS)

  Code 10980 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days