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Reports Within:

Parameter Include:

Requisites
Measures

Number of red blood cells in the blood

Identifies

Red blood cell disorders

Measures: Number of red blood cells in the blood

Identifies: Red blood cell disorders

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What is the maximum days the report can be obtained for the test

The maximum days the report can be obtained for the test Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel is 21 days.

What are the prerequisites for the test Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel

  • Provider must order the test
  • Completed test requisition form
  • Correctly labeled specimen
  • Specimen type: whole blood, extracted DNA or buccal swab
  • Specimen collection kit
  • Specimen storage and shipping instructions followed

What are the measure values for the test Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel

  • Arthrogryposis Panel: 12 genes tested
  • Congenital Myasthenic Syndrome Panel: 14 genes tested

What does this test Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel identify?

  • Arthrogryposis: This test identifies mutations in genes associated with arthrogryposis, a rare condition characterized by multiple joint contractures at birth. These mutations can affect muscle development and function, leading to limited range of motion in the joints.
  • Congenital Myasthenic Syndrome: This test also identifies mutations in genes associated with congenital myasthenic syndrome, a group of inherited neuromuscular disorders characterized by muscle weakness and fatigue. These mutations can affect the communication between nerves and muscles, leading to symptoms such as drooping eyelids, difficulty swallowing, and weakness in the limbs.

Why is this test Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel taken?

  • Arthrogryposis & Congenital Myasthenic Syndrome Gene Panel Test
  • This test is taken to diagnose or confirm the presence of genetic mutations associated with arthrogryposis and congenital myasthenic syndrome.
  • Arthrogryposis is a condition characterized by multiple joint contractures present at birth, which can affect mobility and function.
  • Congenital myasthenic syndrome is a group of inherited neuromuscular disorders that result in muscle weakness and fatigue.
  • By analyzing specific genes known to be associated with these conditions, healthcare providers can provide a more accurate diagnosis and tailor treatment plans accordingly.

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