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 30 of 31

• Transient infantile zinc deficiency (SLC30A2 gene, NGS)

  Code 10599 · Next-generation sequencing (NGS)

  Genes: SLC30A2

  Turnaround time: 33 working days

• Transient neonatal diabetes mellitus (ABCC8 gene, NGS)

  Code 10632 · Next-generation sequencing (NGS)

  Genes: ABCC8

  Turnaround time: 33 working days

• Transient neonatal diabetes mellitus (KCNJ11 gene, NGS)

  Code 10634 · Next-generation sequencing (NGS)

  Genes: KCNJ11

  Turnaround time: 33 working days

• Transient neonatal diabetes mellitus (ZFP57 gene, NGS)

  Code 10633 · Next-generation sequencing (NGS)

  Genes: ZFP57

  Turnaround time: 33 working days

• Transthyretin mutation (TTR gene, Met 30)

  Code 3036 · Sequencing

  Genes: TTR

  Turnaround time: 63 working days

• Treacher Collins syndrome 1 (TCOF1 gene, NGS)

  Code 11347 · Next-generation sequencing (NGS)

  Genes: TCOF1

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Tuberous sclerosis complex (2-gene panel, NGS)

  Code 10907 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 33 working days

• Tuberous sclerosis complex - NGS sequencing (TSC1 and TSC2)

  Code 3165 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 63 working days

• Tuberous sclerosis complex (TSC1 gene, NGS)

  Code 10906 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC2 gene, NGS)

  Code 10905 · Next-generation sequencing (NGS)

  Genes: TSC2

  Turnaround time: 33 working days

• Tyrosinemia (3-gene panel, NGS)

  Code 10181 · Next-generation sequencing (NGS)

  Genes: FAH, HPD, RHBDF2

  Turnaround time: 33 working days

• UBP1 gene testing (NGS)

  Code 3320 · Next-generation sequencing (NGS)

  Genes: UBP1

  Turnaround time: 33 working days

• USF1 gene sequencing

  Code 3135 · Sequencing

  Genes: USF1

  Turnaround time: 43 working days

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

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

  Genes: ARSG

  Turnaround time: 30 working days

• Very long-chain acyl-CoA dehydrogenase deficiency (ACADVL gene, NGS)

  Code 10563 · Next-generation sequencing (NGS)

  Genes: ACADVL

  Turnaround time: 33 working days

• VEXAS syndrome (UBA1 gene, sequencing)

  Code 3510 · Next-generation sequencing (NGS)

  Genes: UBA1

  Turnaround time: 33 working days

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

  Code 10117 · Next-generation sequencing (NGS)

  Genes: MMAA

  Turnaround time: 33 working days

• Vitamin D-dependent rickets (4-gene panel, NGS)

  Code 11335 · Next-generation sequencing (NGS)

  Genes: CYP27B1, CYP2R1, VDR, HNRNPC

  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

• Vitelliform macular dystrophy type 2 (BEST1 gene, NGS)

  Code 3308 · Next-generation sequencing (NGS)

  Genes: BEST1

  Turnaround time: 33 working days

• Von Hippel-Lindau syndrome (VHL) in blood

  Code 3027 · Sequencing

  Genes: VHL

  Turnaround time: 33 working days

• Waardenburg syndrome (PAX3 gene, NGS)

  Code 11355 · Next-generation sequencing (NGS)

  Genes: PAX3

  Turnaround time: 33 working days

• Weaver syndrome (EZH2 gene, NGS)

  Code 11356 · Next-generation sequencing (NGS)

  Genes: EZH2

  Turnaround time: 33 working days

• Williams syndrome [del 7q11.23] (FISH)

  Code 3324 · Fluorescence in situ hybridization (FISH)

  Genes: FISH 7q11.23

  Turnaround time: 10 working days

• Wilson disease (ATP7B gene, NGS)

  Code 4240 · Next-generation sequencing (NGS)

  Genes: ATP7B

  Turnaround time: 30 working days

• Wolfram syndrome, sequencing (WFS1 gene)

  Code 3217 · Sanger sequencing

  Genes: WFS1

  Turnaround time: 23 working days

• Xanthine dehydrogenase deficiency (XDH gene, NGS)

  Code 10553 · Next-generation sequencing (NGS)

  Genes: XDH

  Turnaround time: 33 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