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

488 tests · Page 11 of 17

• 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

• Large deletion/duplication testing (1 gene, NGS, CNVs)

  Code 3441 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 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

• Mahvash disease (GCGR gene, NGS)

  Code 3516 · Next-generation sequencing (NGS)

  Genes: GCGR

  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

• Marshall-Smith syndrome (NFIX gene, NGS)

  Code 11118 · Next-generation sequencing (NGS)

  Genes: NFIX

  Turnaround time: 33 working days

• McCune-Albright syndrome (GNAS gene, NGS)

  Code 11119 · Next-generation sequencing (NGS)

  Genes: GNAS

  Turnaround time: 33 working days

• Meckel syndrome (13-gene panel, NGS)

  Code 11121 · Next-generation sequencing (NGS)

  Genes: B9D1, B9D2, CC2D2A, CEP290, KIF14, MKS1, NPHP3, RPGRIP1L and 5 more

  Turnaround time: 33 working days

• Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus (AKT3 gene, NGS)

  Code 10070 · Next-generation sequencing (NGS)

  Genes: AKT3

  Turnaround time: 33 working days

• Menkes syndrome (ATP7A gene, NGS)

  Code 11120 · Next-generation sequencing (NGS)

  Genes: ATP7A

  Turnaround time: 33 working days