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 10 of 16

• Hypochondroplasia, c.1138G>A/C and c.1620C>A/G mutations

  Code 11012 · Next-generation sequencing (NGS)

  Genes: FGFR3

  Turnaround time: 33 working days

• Hypogonadotropic hypogonadism (27-gene panel, NGS)

  Code 3302 · Next-generation sequencing (NGS)

  Genes: ANOS1, CHD7, CUL4B, DCAF17, DUSP6, FEZF1, FGF17, FGF8 and 31 more

  Turnaround time: 33 working days

• Hypophosphatasia (5-gene panel, NGS)

  Code 11015 · Next-generation sequencing (NGS)

  Genes: CLCN5, DMP1, ENPP1, FGF23, PHEX

  Turnaround time: 33 working days

• Hypophosphatasia (ALPL gene, NGS)

  Code 11016 · Next-generation sequencing (NGS)

  Genes: ALPL

  Turnaround time: 33 working days

• Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly (MED17 gene, NGS)

  Code 10321 · Next-generation sequencing (NGS)

  Genes: MED17

  Turnaround time: 33 working days

• Intellectual disability, autosomal recessive 41 (KPTN gene, NGS)

  Code 11331 · Next-generation sequencing (NGS)

  Genes: KPTN

  Turnaround time: 33 working days

• Isolated breast aplasia (PTPRF gene, NGS)

  Code 10286 · Next-generation sequencing (NGS)

  Genes: PTPRF

  Turnaround time: 33 working days

• Isolated growth hormone deficiency type IB (GHRHR gene, NGS)

  Code 10557 · Next-generation sequencing (NGS)

  Genes: GHRHR

  Turnaround time: 33 working days

• Joubert syndrome type 7 (RPGRIP1L gene, NGS)

  Code 11062 · Next-generation sequencing (NGS)

  Genes: RPGRIP1L

  Turnaround time: 33 working days

• Kabuki syndrome (2-gene panel, NGS)

  Code 11067 · Next-generation sequencing (NGS)

  Genes: KDM6A, KMT2A

  Turnaround time: 33 working days

• Kabuki syndrome (KDM6A gene, NGS)

  Code 11066 · Next-generation sequencing (NGS)

  Genes: KDM6A

  Turnaround time: 33 working days

• Kabuki syndrome (KMT2D gene, NGS)

  Code 11065 · Next-generation sequencing (NGS)

  Genes: KMT2D

  Turnaround time: 33 working days

• Karyotype of peripheral blood lymphocytes

  Code 3004 · Cytogenetic analysis

  Genes: Cariótipo

  Turnaround time: 13 working days

• Karyotype of tissue fibroblasts

  Code 3008 · Cytogenetic analysis

  Genes: Cariótipo

  Turnaround time: 25 working days

• Klippel-Feil syndrome (5-gene panel, NGS)

  Code 11071 · Next-generation sequencing (NGS)

  Genes: GDF3, GDF6, MEOX1, MYO18B, RIPPLY2

  Turnaround time: 33 working days

• Laron syndrome (GHR gene, NGS)

  Code 11076 · Next-generation sequencing (NGS)

  Genes: GHR

  Turnaround time: 33 working days

• Larsen syndrome (FLNB gene, NGS)

  Code 11077 · Next-generation sequencing (NGS)

  Genes: FLNB

  Turnaround time: 33 working days

• LEOPARD syndrome (PTPN11 gene, NGS)

  Code 11079 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days

• LEOPARD syndrome (RAF1 gene, NGS)

  Code 11080 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Leri-Weill dyschondrosteosis (LWD) SHOX (SHOX gene, NGS)

  Code 10649 · Next-generation sequencing (NGS)

  Genes: SHOX

  Turnaround time: 33 working days

• Lissencephaly (21-gene panel, NGS)

  Code 11109 · Next-generation sequencing (NGS)

  Genes: ACTB, ACTG1, ARX, ATP6V0A2, CDK5, DCX, FKTN, ISPD and 13 more

  Turnaround time: 33 working days

• Lissencephaly (PAFAH1B1 gene, NGS)

  Code 11106 · Next-generation sequencing (NGS)

  Genes: PAFAH1B1

  Turnaround time: 33 working days

• Lissencephaly (RELN gene, NGS)

  Code 11105 · Next-generation sequencing (NGS)

  Genes: RELN

  Turnaround time: 33 working days

• Lissencephaly (TMTC3 gene, NGS)

  Code 10184 · Next-generation sequencing (NGS)

  Genes: TMTC3

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (6-gene panel, NGS)

  Code 11112 · Next-generation sequencing (NGS)

  Genes: SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR1 gene, NGS)

  Code 11111 · Next-generation sequencing (NGS)

  Genes: TGFBR1

  Turnaround time: 33 working days

• Loeys-Dietz syndrome (TGFBR2 gene, NGS)

  Code 11110 · Next-generation sequencing (NGS)

  Genes: TGFBR2

  Turnaround time: 33 working days

• Mandibulofacial dysostosis (EFTUD2 gene, NGS)

  Code 10663 · Next-generation sequencing (NGS)

  Genes: EFTUD2

  Turnaround time: 33 working days

• Marfan syndrome (3-gene panel, NGS)

  Code 11117 · Next-generation sequencing (NGS)

  Genes: TGFBR1, TGFBR2, FBN1

  Turnaround time: 33 working days

• Marfan syndrome (FBN1 gene, NGS)

  Code 11115 · Next-generation sequencing (NGS)

  Genes: FBN1

  Turnaround time: 33 working days