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

488 tests · Page 5 of 17

• Congenital nonautoimmune hyperthyroidism (TSHR gene, sequencing)

  Code 3270 · Sanger sequencing

  Genes: TSHR

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (5-gene panel, NGS)

  Code 10514 · Next-generation sequencing (NGS)

  Genes: HDAC8, NIPBL, RAD21, SMC1A, SMC3

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (NIPBL gene, NGS)

  Code 10515 · Next-generation sequencing (NGS)

  Genes: NIPBL

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC1A gene, NGS)

  Code 10516 · Next-generation sequencing (NGS)

  Genes: SMC1A

  Turnaround time: 33 working days

• Cornelia de Lange syndrome (SMC3 gene, NGS)

  Code 10517 · Next-generation sequencing (NGS)

  Genes: SMC3

  Turnaround time: 33 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Craniofrontonasal dysplasia (EFNB1 gene, NGS)

  Code 10667 · Next-generation sequencing (NGS)

  Genes: EFNB1

  Turnaround time: 33 working days

• Craniosynostosis (22-gene panel, NGS)

  Code 10522 · Next-generation sequencing (NGS)

  Genes: ALX4, COLEC11, CYP26B1, EFNB1, ERF, FBN1, FGFR1, FGFR2 and 14 more

  Turnaround time: 33 working days

• Craniosynostosis (28-gene panel, NGS)

  Code 3306 · Next-generation sequencing (NGS)

  Genes: CYP26B1, EFNB1, ERF, FAM20C, FGFR1, FGFR2, FGFR3, FREM1 and 20 more

  Turnaround time: 33 working days

• Craniosynostosis type 1 (TWIST1 gene, NGS)

  Code 10523 · Next-generation sequencing (NGS)

  Genes: TWIST1

  Turnaround time: 33 working days

• Craniosynostosis type 2 (MSX2 gene, NGS)

  Code 10524 · Next-generation sequencing (NGS)

  Genes: MSX2

  Turnaround time: 33 working days

• Craniosynostosis type 3 (TCF12 gene, NGS)

  Code 10525 · Next-generation sequencing (NGS)

  Genes: TCF12

  Turnaround time: 33 working days

• Crouzon syndrome (FGFR2 gene, NGS)

  Code 10529 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• C syndrome (CD96 gene, NGS)

  Code 10403 · Next-generation sequencing (NGS)

  Genes: CD96

  Turnaround time: 33 working days

• CYP1B1 gene testing (NGS, MLPA)

  Code 3502 · Next-generation sequencing (NGS) + MLPA

  Genes: CYP1B1

  Turnaround time: 33 working days

• Cystic fibrosis (phase I: common variants)

  Code 3022 · PCR

  Genes: CFTR

  Turnaround time: 15 working days

• Deficiency of the interleukin-1 receptor antagonist (IL1RN gene, NGS)

  Code 10554 · Next-generation sequencing (NGS)

  Genes: IL1RN

  Turnaround time: 33 working days

• Dent disease (2-gene panel, NGS)

  Code 10619 · Next-generation sequencing (NGS)

  Genes: CLCN5, OCRL

  Turnaround time: 33 working days

• Dent disease (CLCN5 gene, NGS)

  Code 10617 · Next-generation sequencing (NGS)

  Genes: CLCN5

  Turnaround time: 33 working days

• Dent disease (OCRL gene, NGS)

  Code 10618 · Next-generation sequencing (NGS)

  Genes: OCRL

  Turnaround time: 33 working days

• Dentinogenesis imperfecta, Shields type 2 (DSPP gene, NGS)

  Code 10620 · Next-generation sequencing (NGS)

  Genes: DSPP

  Turnaround time: 33 working days

• Desbuquois syndrome (CANT1 gene, NGS)

  Code 10622 · Next-generation sequencing (NGS)

  Genes: CANT1

  Turnaround time: 33 working days

• Desbuquois syndrome (XYLT1 gene, NGS)

  Code 10623 · Next-generation sequencing (NGS)

  Genes: XYLT1

  Turnaround time: 33 working days

• Detection of trisomies/monosomies by PCR (biological sample)

  Code 3073 · Cytogenetic analysis

  Genes: QF-PCR

  Turnaround time: 6 working days

• Diamond-Blackfan anemia (9-gene panel, NGS)

  Code 10378 · Next-generation sequencing (NGS)

  Genes: RPS19, RPL5, RPS10, RPL11, RPL35A, RPS26, RPS24, RPS17 and 1 more

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (9-gene panel, NGS)

  Code 3252 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL11 gene, NGS)

  Code 10385 · Next-generation sequencing (NGS)

  Genes: RPL11

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL35A gene, NGS)

  Code 10381 · Next-generation sequencing (NGS)

  Genes: RPL35A

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPL5 gene, NGS)

  Code 10380 · Next-generation sequencing (NGS)

  Genes: RPL5

  Turnaround time: 33 working days

• Diamond-Blackfan anemia (RPS10 gene, NGS)

  Code 10384 · Next-generation sequencing (NGS)

  Genes: RPS10

  Turnaround time: 33 working days