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 13 of 14

• Pulmonary surfactant deficiency (ABCA3 gene, NGS)

  Code 10594 · Next-generation sequencing (NGS)

  Genes: ABCA3

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (CSF2RB gene, NGS)

  Code 10595 · Next-generation sequencing (NGS)

  Genes: CSF2RB

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (SFTPB gene, NGS)

  Code 10597 · Next-generation sequencing (NGS)

  Genes: SFTPB

  Turnaround time: 33 working days

• Pulmonary surfactant deficiency (SFTPC gene, NGS)

  Code 10598 · Next-generation sequencing (NGS)

  Genes: SFTPC

  Turnaround time: 33 working days

• Purine nucleoside phosphorylase deficiency (PNP gene, NGS)

  Code 10551 · Next-generation sequencing (NGS)

  Genes: PNP

  Turnaround time: 33 working days

• Pycnodysostosis (CTSK gene, NGS)

  Code 11289 · Next-generation sequencing (NGS)

  Genes: CTSK

  Turnaround time: 33 working days

• Pyruvate carboxylase deficiency (PC gene, NGS)

  Code 10587 · Next-generation sequencing (NGS)

  Genes: PC

  Turnaround time: 33 working days

• Pyruvate dehydrogenase E1-alpha deficiency (PDHA1 gene, NGS)

  Code 10588 · Next-generation sequencing (NGS)

  Genes: PDHA1

  Turnaround time: 33 working days

• Renal glucosuria (SLC5A2 gene, NGS)

  Code 10950 · Next-generation sequencing (NGS)

  Genes: SLC5A2

  Turnaround time: 33 working days

• Schaaf-Yang syndrome (MAGEL2 gene, NGS)

  Code 11339 · Next-generation sequencing (NGS)

  Genes: MAGEL2

  Turnaround time: 33 working days

• SDHD gene testing

  Code 3138 · PCR / Sequencing

  Genes: SDHD

  Turnaround time: 33 working days

• Selenoprotein gene mutation testing

  Code 2456 · PCR

  Genes: SELENOP

  Turnaround time: 33 working days

• Septo-optic dysplasia (24-gene panel, NGS)

  Code 10696 · Next-generation sequencing (NGS)

  Genes: ARNT2, CDON, DHCR7, DISP1, FGF8, FGFR1, GAS1, GLI2 and 16 more

  Turnaround time: 33 working days

• Septo-optic dysplasia (HESX1 gene, NGS)

  Code 10695 · Next-generation sequencing (NGS)

  Genes: HESX1

  Turnaround time: 33 working days

• Severe obesity (46-gene panel, NGS)

  Code 3346 · Next-generation sequencing (NGS)

  Genes: ADRB2, ADRB3, AGRP, ALMS1, ARL6, BBIP1, BBS1, BBS10 and 38 more

  Turnaround time: 33 working days

• Short-chain acyl-CoA dehydrogenase deficiency (ACADS gene, NGS)

  Code 10564 · Next-generation sequencing (NGS)

  Genes: ACADS

  Turnaround time: 33 working days

• Short stature (gene panel, NGS)

  Code 3530 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• SHOX gene testing (MLPA)

  Code 3476 · MLPA

  Genes: SHOX

  Turnaround time: 33 working days

• SHOX gene testing (NGS)

  Code 3512 · Next-generation sequencing (NGS)

  Genes: SHOX

  Turnaround time: 33 working days

• Sitosterolemia (2-gene panel, NGS)

  Code 10928 · Next-generation sequencing (NGS)

  Genes: ABCG5, ABCG8

  Turnaround time: 33 working days

• Sport gene Profile Cardio (13 SNPs)

  Code 3092 · SNaPshot

  Genes: 13 SNPs

  Turnaround time: 33 working days

• Sport gene Profile Complete (34 SNPs)

  Code 3091 · SNaPshot

  Genes: 34 SNPs

  Turnaround time: 23 working days

• Sport gene Profile Detox (23 SNPs)

  Code 3093 · SNaPshot

  Genes: 23 SNPs

  Turnaround time: 33 working days

• Sport gene Profile Sudden Death (12 mutations)

  Code 3094 · SNaPshot

  Genes: 12 mutações

  Turnaround time: 33 working days

• Succinic semialdehyde dehydrogenase deficiency (ALDH5A1 gene, NGS)

  Code 10591 · Next-generation sequencing (NGS)

  Genes: ALDH5A1

  Turnaround time: 33 working days

• Succinyl-CoA:acetoacetate transferase deficiency (OXCT1 gene, NGS)

  Code 10592 · Next-generation sequencing (NGS)

  Genes: OXCT1

  Turnaround time: 33 working days

• Sulfite oxidase deficiency due to molybdenum cofactor deficiency (MOCS2 gene, NGS)

  Code 10552 · Next-generation sequencing (NGS)

  Genes: MOCS2

  Turnaround time: 33 working days

• Sulfite oxidase, molybdenum and xanthine deficiency (6-gene panel, NGS)

  Code 10134 · Next-generation sequencing (NGS)

  Genes: GPHN, MOCOS, MOCS1, MOCS2, SUOX, XDH

  Turnaround time: 33 working days

• Tay-Sachs disease (HEXA gene, NGS)

  Code 10091 · Next-generation sequencing (NGS)

  Genes: HEXA

  Turnaround time: 33 working days

• Thiamine-responsive megaloblastic anemia syndrome (SLC19A2 gene, NGS)

  Code 10260 · Next-generation sequencing (NGS)

  Genes: SLC19A2

  Turnaround time: 33 working days