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Catalog ID SCN Gene Severe Chronic and/or Congenital Neutropenia (SCN) Genetic Testing (sponsored free testing)

Important Note

Order: Ref Misc Referral Lab Test

Comment: Invitae SCN

Note: This is FREE genetic testing offered patients who are suspected of having SCN or WHIM syndrome.

Eligibility

Patients who meet the inclusion criteria (below) which suggest severe chronic/congenital neutropenia are:

History of chronic severe neutropenia (ANC ≤ 500/uL), permanent or intermittent (cyclical), of unknown origin, AND with a clinical presentation compatible with chronic idiopathic neutropenia or severe congenital neutropenia.

Invitae will also offer family variant testing (FVT) for all blood relatives of patients found to have a pathogenic or likely pathogenic variant, at no additional charge within 90 days of the original patient’s test. This service includes full analysis of the gene in which the original family member’s variant was identified.

Specimen Requirements

Request specimen collection kit from the Specimen Referral Laboratory at 706-721-4868 or send the patient to the 2nd floor MOB Laboratory.

Fill out the requisition that is under the "Resources" section on the left side of this screen. It must have a physician's signature. Submit the requisition form with the completed kit or have the patient present it to the laboratory for draw.

Turn Around Time

10-21 days

Performing Laboratory

Invitae

https://www.invitae.com/en/path4ward/

Interpretative Information

The Invitae Inborn Errors of Immunity and Cytopenias Panel analyzes genes that are associated with inherited disorders of the immune system including inherited causes of cytopenia such as bone marrow failure and hereditary lymphoma. These genes were selected based on the available evidence to date and comprise Invitae’s broadest test for inborn errors of immunity.

Disorders tested

  • severe combined immunodeficiency
  • combined immunodeficiency
  • combined immunodeficiency with syndromic features
  • major histocompatibility complex class I and II deficiencies
  • dyskeratosis congenita
  • agammaglobulinemia and hypogammaglobulinemia
  • hyper IgM syndrome
  • hyper IgE syndrome, including Netherton syndrome
  • monogenic common variable immune deficiency
  • chronic mucocutaneous candidiasis
  • herpes simplex encephalitis
  • epidermodysplasia verruciformis
  • WHIM syndrome
  • Mendelian susceptibility to mycobacterial infections
  • autoimmune lymphoproliferative syndrome
  • familial hemophagocytic lymphohistiocytosis and related disorders
  • Hermansky-Pudlak syndrome
  • congenital neutropenia
  • chronic granulomatous disease
  • leukocyte adhesion deficiency
  • pulmonary alveolar proteinosis
  • immunodeficiency- centromeric instability- facial anomalies syndrome
  • complement deficiencies
  • monogenic congenital diarrhea
  • monogenic autoinflammatory syndromes
  • monogenic autoimmunity
  • periodic fever syndromes
  • familial cold autoinflammatory syndromes
  • familial Mediterranean fever
  • monogenic inflammatory bowel disease
  • activated PI3K-delta syndrome
  • congenital dyserythropoietic anemia
  • Majeed syndrome
  • primary ciliary dyskinesia
  • Cystic fibrosis
  • atypical hemolytic uremic syndrome
  • thrombotic thrombocytopenic purpura
  • sitosterolemia
  • congenital sideroblastic anemia
  • familial essential thrombocythemia
  • congenital amegakaryocytic thrombocytopenia
  • Constitutional mismatch repair deficiency syndrome (CMMR-D)
  • Coats Plus syndrome
  • Pulmonary fibrosis
  • Aplastic anemia, Myelodysplastic syndrome, Acute myelogenous leukemia, Bone marrow failure
  • POT1 tumor predisposition
  • Diamond-Blackfan anemia
  • Fanconi anemia (FA)
  • Shwachman-Diamond syndrome
  • Glanzmann thrombasthenia
  • Bernard-Soulier syndrome
  • Wiskott-Aldrich syndrome
  • Familial platelet disorder with associated myeloid malignancy