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

414 tests · Page 14 of 14

• THRB gene testing (sequencing)

  Code 3243 · Sanger sequencing

  Genes: THRB

  Turnaround time: 33 working days

• Thyroid hormone resistance (exons 7-10, THRB gene, sequencing)

  Code 3283 · Sanger sequencing

  Genes: exões 7-10, gene THRB

  Turnaround time: 33 working days

• Thyroid hormone resistance (THRB gene, NGS)

  Code 10088 · Next-generation sequencing (NGS)

  Genes: THRB

  Turnaround time: 33 working days

• 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

• Trimethylaminuria, FMO3 gene sequencing

  Code 3120 · Sequencing

  Genes: FMO3

  Turnaround time: 48 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Tumoral calcinosis (FGF23 gene, NGS)

  Code 10413 · Next-generation sequencing (NGS)

  Genes: FGF23

  Turnaround time: 33 working days

• Tumoral calcinosis (GALNT3 gene, NGS)

  Code 10412 · Next-generation sequencing (NGS)

  Genes: GALNT3

  Turnaround time: 33 working days

• Tumoral calcinosis (KL gene, NGS)

  Code 10414 · Next-generation sequencing (NGS)

  Genes: KL

  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

• USF1 gene sequencing

  Code 3135 · Sequencing

  Genes: USF1

  Turnaround time: 43 working days

• Variegate porphyria (PPOX gene, NGS)

  Code 11303 · Next-generation sequencing (NGS)

  Genes: PPOX

  Turnaround time: 33 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

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

  Code 11335 · Next-generation sequencing (NGS)

  Genes: CYP27B1, CYP2R1, VDR, HNRNPC

  Turnaround time: 33 working days

• Werner syndrome (WRN gene, NGS)

  Code 11357 · Next-generation sequencing (NGS)

  Genes: WRN

  Turnaround time: 33 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

• Xanthine dehydrogenase deficiency (XDH gene, NGS)

  Code 10553 · Next-generation sequencing (NGS)

  Genes: XDH

  Turnaround time: 33 working days

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

  Code 11334 · Next-generation sequencing (NGS)

  Genes: PHEX

  Turnaround time: 33 working days

• X-linked nephrogenic diabetes insipidus (AVPR2 gene, NGS)

  Code 10629 · Next-generation sequencing (NGS)

  Genes: AVPR2

  Turnaround time: 33 working days

• Y chromosome microdeletions

  Code 3009 · PCR / Sequencing

  Genes: Chr Y

  Turnaround time: 10 working days