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

617 tests · Page 11 of 21

• Glutaric acidemia type 2 (GCDH gene, NGS)

  Code 10101 · Next-generation sequencing (NGS)

  Genes: GCDH

  Turnaround time: 33 working days

• Glycogen metabolism disorders (33-gene panel, NGS)

  Code 10035 · Next-generation sequencing (NGS)

  Genes: AGL, ALDOA, ENO3, EPM2A, FBP1, FBP2, G6PC, GAA and 25 more

  Turnaround time: 33 working days

• Gonadal dysgenesis (XY female) (Swyer syndrome) (DHH gene, NGS)

  Code 10655 · Next-generation sequencing (NGS)

  Genes: DHH

  Turnaround time: 33 working days

• Gonadal dysgenesis (XY female) (Swyer syndrome) (NR5A1 gene, NGS)

  Code 10656 · Next-generation sequencing (NGS)

  Genes: NR5A1

  Turnaround time: 33 working days

• Gonadal dysgenesis (XY female) (Swyer syndrome) (SRY gene, NGS)

  Code 10654 · Next-generation sequencing (NGS)

  Genes: SRY

  Turnaround time: 33 working days

• Gorlin syndrome (gene panel, NGS, CNVs)

  Code 3437 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Gorlin syndrome (PTCH1 gene, NGS)

  Code 10952 · Next-generation sequencing (NGS)

  Genes: PTCH1

  Turnaround time: 33 working days

• Gorlin syndrome (SUFU gene, NGS)

  Code 10951 · Next-generation sequencing (NGS)

  Genes: SUFU

  Turnaround time: 33 working days

• Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, postaxial polydactyly types A and B, and preaxial polydactyly type IV (GLI3 gene, NGS)

  Code 10098 · Next-generation sequencing (NGS)

  Genes: GLI3

  Turnaround time: 33 working days

• Griscelli syndrome type 1 (MYO5A gene, NGS)

  Code 10954 · Next-generation sequencing (NGS)

  Genes: MYO5A

  Turnaround time: 33 working days

• Hajdu-Cheney syndrome (NOTCH2 gene, NGS)

  Code 10955 · Next-generation sequencing (NGS)

  Genes: NOTCH2

  Turnaround time: 33 working days

• Hemochromatosis (6-gene panel, NGS)

  Code 3356 · Next-generation sequencing (NGS)

  Genes: HAMP, HFE, HJV, SLC40A1, TFR2, FTH1

  Turnaround time: 33 working days

• Hemoglobinopathy D (3-gene panel, NGS)

  Code 10959 · Next-generation sequencing (NGS)

  Genes: HBB, HBG1, HBG2

  Turnaround time: 33 working days

• Hemolytic uremic syndrome (CFH gene, NGS)

  Code 10789 · Next-generation sequencing (NGS)

  Genes: CFH

  Turnaround time: 33 working days

• Hereditary female cancer (16 hereditary cancer types) (49-gene panel, NGS)

  Code 10042 · Next-generation sequencing (NGS)

  Genes: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1 and 41 more

  Turnaround time: 33 working days

• Hereditary hearing loss, autosomal recessive (AR) type 28 (TRIOBP gene, sequencing)

  Code 3318 · Sanger sequencing

  Genes: TRIOBP

  Turnaround time: 33 working days

• Hereditary male cancer (15 hereditary cancer types) (41-gene panel, NGS)

  Code 10043 · Next-generation sequencing (NGS)

  Genes: APC, AXIN2, BMPR1A, BRCA1, BRCA2, CDC73, CDH1, CDK4 and 33 more

  Turnaround time: 33 working days

• Hereditary pancreatitis (5-gene panel, NGS)

  Code 3242 · Next-generation sequencing (NGS)

  Genes: PRSS1, PRSS2, SPINK1, CFTR, CTRC

  Turnaround time: 33 working days

• Hereditary pancreatitis (SBDS gene, NGS)

  Code 11239 · Next-generation sequencing (NGS)

  Genes: SBDS

  Turnaround time: 33 working days

• Hereditary persistence of fetal hemoglobin - beta-thalassemia (HBG2 gene, NGS)

  Code 11283 · Next-generation sequencing (NGS)

  Genes: HBG2

  Turnaround time: 33 working days

• Hereditary sensory and autonomic neuropathy type 1A (SPTLC1 gene, NGS)

  Code 11172 · Next-generation sequencing (NGS)

  Genes: SPTLC1

  Turnaround time: 33 working days

• Hereditary spastic paraplegia (77-gene panel, NGS)

  Code 3219 · Next-generation sequencing (NGS)

  Genes: ABCD1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, AP4B1 and 69 more

  Turnaround time: 48 working days

• Hereditary xerocytosis (PIEZO1 gene, NGS)

  Code 3309 · Next-generation sequencing (NGS)

  Genes: PIEZO1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (18-gene panel, NGS)

  Code 11354 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3, HPS4 and 10 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (19-gene panel, NGS)

  Code 10081 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3 and 11 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (9-gene panel, NGS)

  Code 10972 · Next-generation sequencing (NGS)

  Genes: HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3 and 1 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (AP3B1 gene, NGS)

  Code 10964 · Next-generation sequencing (NGS)

  Genes: AP3B1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (BLOC1S3 gene, NGS)

  Code 10970 · Next-generation sequencing (NGS)

  Genes: BLOC1S3

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (BLOC1S6 gene, NGS)

  Code 10971 · Next-generation sequencing (NGS)

  Genes: BLOC1S6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (DTNBP1 gene, NGS)

  Code 10969 · Next-generation sequencing (NGS)

  Genes: DTNBP1

  Turnaround time: 33 working days