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

453 tests · Page 15 of 16

• Skeletal dysplasia with abnormal mineralization (32-gene panel, NGS)

  Code 10690 · Next-generation sequencing (NGS)

  Genes: ALPL, ANKH, B4GALT7, CASR, CLCN5, COL1A1, COL1A2, COL3A1 and 24 more

  Turnaround time: 33 working days

• Smith-Lemli-Opitz syndrome (DHCR7 gene, NGS)

  Code 10093 · Next-generation sequencing (NGS)

  Genes: DHCR7

  Turnaround time: 33 working days

• Sotos syndrome and related syndromes (4-gene panel, NGS)

  Code 11344 · Next-generation sequencing (NGS)

  Genes: EZH2, GPC3, NFIX, NSD1

  Turnaround time: 33 working days

• Sotos syndrome (NSD1 gene, NGS)

  Code 11343 · Next-generation sequencing (NGS)

  Genes: NSD1

  Turnaround time: 33 working days

• Sperm FISH

  Code 3047 · In situ hybridization - probe

  Genes: FISH aneuploidias

  Turnaround time: 13 working days

• Sperm FISH (9 probes)

  Code 3229 · In situ hybridization - probe

  Genes: FISH

  Turnaround time: 13 working days

• Spinal muscular atrophy (SMN1 and SMN2 gene testing)

  Code 3125 · MLPA / PCR

  Genes: SMN1, SMN2

  Turnaround time: 25 working days

• Split-hand/foot malformation 1 with sensorineural hearing loss (DLX5 gene, NGS)

  Code 10061 · Next-generation sequencing (NGS)

  Genes: DLX5

  Turnaround time: 33 working days

• Spondyloepiphyseal dysplasia congenita (COL2A1 gene, NGS)

  Code 10684 · Next-generation sequencing (NGS)

  Genes: COL2A1

  Turnaround time: 33 working days

• Spondyloepiphyseal dysplasia, Kimberley type / Spondylometaphyseal dysplasia, aggrecan type / Familial osteochondritis dissecans (ACAN gene, NGS)

  Code 10688 · Next-generation sequencing (NGS)

  Genes: ACAN

  Turnaround time: 33 working days

• Spondylometaphyseal dysplasia (27-gene panel, NGS)

  Code 10689 · Next-generation sequencing (NGS)

  Genes: ACAN, ACP5, B3GALT6, BGN, CANT1, CHST3, COL11A1, COL11A2 and 19 more

  Turnaround time: 33 working days

• Spondylometaphyseal dysplasia with combined immunodeficiency (ACP5 gene, NGS)

  Code 10687 · Next-generation sequencing (NGS)

  Genes: ACP5

  Turnaround time: 33 working days

• Stickler syndrome (5-gene panel, NGS)

  Code 10080 · Next-generation sequencing (NGS)

  Genes: COL11A1, COL11A2, COL2A1, COL9A1, COL9A2

  Turnaround time: 33 working days

• Testing for fetal RhD in maternal blood

  Code 3076 · Molecular biology

  Genes: Rh Fetal em Sangue Materno

  Turnaround time: 10 working days

• Thanatophoric dysplasia types I and II (FGFR3 gene, NGS)

  Code 10697 · Next-generation sequencing (NGS)

  Genes: FGFR3

  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

• Treacher Collins syndrome 1 (TCOF1 gene, NGS)

  Code 11347 · Next-generation sequencing (NGS)

  Genes: TCOF1

  Turnaround time: 33 working days

• Trio exome (NGS)

  Code 3290 · Next-generation sequencing (NGS)

  Genes: Exoma Trio (NGS)

  Turnaround time: 33 working days

• Tuberous sclerosis complex (2-gene panel, NGS)

  Code 10907 · Next-generation sequencing (NGS)

  Genes: TSC1, TSC2

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC1 gene, NGS)

  Code 10906 · Next-generation sequencing (NGS)

  Genes: TSC1

  Turnaround time: 33 working days

• Tuberous sclerosis complex (TSC2 gene, NGS)

  Code 10905 · Next-generation sequencing (NGS)

  Genes: TSC2

  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

• Weaver syndrome (EZH2 gene, NGS)

  Code 11356 · Next-generation sequencing (NGS)

  Genes: EZH2

  Turnaround time: 33 working days

• Williams syndrome [del 7q11.23] (FISH)

  Code 3324 · Fluorescence in situ hybridization (FISH)

  Genes: FISH 7q11.23

  Turnaround time: 10 working days

• Wolfram syndrome, sequencing (WFS1 gene)

  Code 3217 · Sanger sequencing

  Genes: WFS1

  Turnaround time: 23 working days

• X-linked dominant chondrodysplasia punctata (EBP gene, NGS)

  Code 10502 · Next-generation sequencing (NGS)

  Genes: EBP

  Turnaround time: 33 working days

• X-linked hydrocephalus (L1CAM gene, NGS)

  Code 10983 · Next-generation sequencing (NGS)

  Genes: L1CAM

  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 lissencephaly (DCX gene, NGS)

  Code 11108 · Next-generation sequencing (NGS)

  Genes: DCX

  Turnaround time: 33 working days

• X-linked periventricular heterotopia (FLNA gene, NGS)

  Code 10980 · Next-generation sequencing (NGS)

  Genes: FLNA

  Turnaround time: 33 working days