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

221 tests · Page 4 of 8

• Glaucoma (26-gene panel, NGS)

  Code 10082 · Next-generation sequencing (NGS)

  Genes: ACVR1, ASB10, BEST1, CANT1, COL18A1, CYP1B1, FOXC1, ISPD and 18 more

  Turnaround time: 33 working days

• GM1 gangliosidosis type 1 (GLB1 gene, NGS)

  Code 10931 · Next-generation sequencing (NGS)

  Genes: GLB1

  Turnaround time: 33 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

• Griscelli syndrome type 1 (MYO5A gene, NGS)

  Code 10954 · Next-generation sequencing (NGS)

  Genes: MYO5A

  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

• 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 (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

• Hermansky-Pudlak syndrome (HPS1 gene, NGS)

  Code 10963 · Next-generation sequencing (NGS)

  Genes: HPS1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS3 gene, NGS)

  Code 10965 · Next-generation sequencing (NGS)

  Genes: HPS3

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS4 gene, NGS)

  Code 10966 · Next-generation sequencing (NGS)

  Genes: HPS4

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS5 gene, NGS)

  Code 10967 · Next-generation sequencing (NGS)

  Genes: HPS5

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS6 gene, NGS)

  Code 10968 · Next-generation sequencing (NGS)

  Genes: HPS6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome type 2 (AP3B1 gene, NGS)

  Code 10962 · Next-generation sequencing (NGS)

  Genes: AP3B1

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (6-gene panel, NGS)

  Code 11036 · Next-generation sequencing (NGS)

  Genes: CBS, MMACHC, MMADHC, MTHFR, MTR, MTRR

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (CBS gene, NGS)

  Code 11035 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days

• Hyperhomocysteinemia (MTHFR gene, NGS)

  Code 10995 · Next-generation sequencing (NGS)

  Genes: MTHFR

  Turnaround time: 33 working days

• Isolated ectopia lentis, autosomal dominant (FBN1 gene, NGS)

  Code 10804 · Next-generation sequencing (NGS)

  Genes: FBN1

  Turnaround time: 33 working days

• Isolated ectopia lentis, autosomal recessive (ADAMTSL4 gene, NGS)

  Code 10805 · Next-generation sequencing (NGS)

  Genes: ADAMTSL4

  Turnaround time: 33 working days

• Joubert syndrome (41-gene panel, NGS)

  Code 10078 · Next-generation sequencing (NGS)

  Genes: AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104 and 33 more

  Turnaround time: 33 working days

• Joubert syndrome type 10 (OFD1 gene, NGS)

  Code 11054 · Next-generation sequencing (NGS)

  Genes: OFD1

  Turnaround time: 33 working days

• Joubert syndrome type 12 (KIF7 gene, NGS)

  Code 11055 · Next-generation sequencing (NGS)

  Genes: KIF7

  Turnaround time: 33 working days

• Joubert syndrome type 1 (INPP5E gene, NGS)

  Code 11056 · Next-generation sequencing (NGS)

  Genes: INPP5E

  Turnaround time: 33 working days

• Joubert syndrome type 2 (TMEM216 gene, NGS)

  Code 11057 · Next-generation sequencing (NGS)

  Genes: TMEM216

  Turnaround time: 33 working days

• Joubert syndrome type 4 (NPHP1 gene, NGS)

  Code 11059 · Next-generation sequencing (NGS)

  Genes: NPHP1

  Turnaround time: 33 working days

• Joubert syndrome type 5 (CEP290 gene, NGS)

  Code 11060 · Next-generation sequencing (NGS)

  Genes: CEP290

  Turnaround time: 33 working days

• Joubert syndrome type 6 (TMEM67 gene, NGS)

  Code 11061 · Next-generation sequencing (NGS)

  Genes: TMEM67

  Turnaround time: 33 working days